MyVariant.info:
GRCh37
chr2:g.179439744T>G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178575017T>G , CM000664.2:g.178575017T>G | GRCh38 |
| NC_000002.11:g.179439744T>G , CM000664.1:g.179439744T>G | GRCh37 |
| NC_000002.10:g.179147990T>G | NCBI36 |
| NG_011618.3:g.260786A>C , LRG_391:g.260786A>C | |
| NG_051363.1:g.57191T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.63411A>C (TTN) | ENSP00000343764.6:p.Pro21137= | |
| ENST00000342175.11:c.44496A>C (TTN) | ENSP00000340554.6:p.Pro14832= | |
| ENST00000359218.10:c.44295A>C (TTN) | ENSP00000352154.5:p.Pro14765= | |
| ENST00000342175.10:c.44496A>C (TTN) | ENSP00000340554.6:p.Pro14832= | |
| ENST00000342992.10:c.63411A>C (TTN) | ENSP00000343764.6:p.Pro21137= | |
| ENST00000359218.9:c.44295A>C (TTN) | ENSP00000352154.5:p.Pro14765= | |
| ENST00000460472.6:c.43920A>C (TTN) | ENSP00000434586.1:p.Pro14640= | |
| ENST00000589042.5:c.71115A>C (TTN) MANE Select | ENSP00000467141.1:p.Pro23705= | |
| ENST00000591111.5:c.66192A>C (TTN) | ENSP00000465570.1:p.Pro22064= | |
| ENST00000615779.4:c.66192A>C (TTN) | ENSP00000483597.1:p.Pro22064= | |
| NM_001256850.1:c.66192A>C (TTN) | NP_001243779.1:p.Pro22064= | |
| NM_001267550.2:c.71115A>C (TTN) MANE Select | NP_001254479.2:p.Pro23705= | |
| NM_003319.4:c.43920A>C (TTN) | NP_003310.4:p.Pro14640= | |
| NM_133378.4:c.63411A>C (TTN) | NP_596869.4:p.Pro21137= | |
| NM_133432.3:c.44295A>C (TTN) | NP_597676.3:p.Pro14765= | |
| NM_133437.4:c.44496A>C (TTN) | NP_597681.4:p.Pro14832= | |
| NR_038271.1:n.596+3568T>G (TTN-AS1) | ||
| NR_038272.1:n.2044-7555T>G (TTN-AS1) | ||
| XM_011511729.1:c.70212A>C (TTN) | XP_011510031.1:p.Pro23404= | |
| XM_011511730.1:c.44106A>C (TTN) | XP_011510032.1:p.Pro14702= | |
| XM_011511731.1:c.43965A>C (TTN) | XP_011510033.1:p.Pro14655= | |
| XM_017004819.1:c.70008A>C (TTN) | XP_016860308.1:p.Pro23336= | |
| XM_017004820.1:c.65406A>C (TTN) | XP_016860309.1:p.Pro21802= | |
| XM_017004821.1:c.65403A>C (TTN) | XP_016860310.1:p.Pro21801= | |
| XM_017004822.1:c.62445A>C (TTN) | XP_016860311.1:p.Pro20815= | |
| XM_017004823.1:c.44061A>C (TTN) | XP_016860312.1:p.Pro14687= | |
| XM_024453094.1:c.65556A>C (TTN) | XP_024308862.1:p.Pro21852= | |
| XM_024453095.1:c.65553A>C (TTN) | XP_024308863.1:p.Pro21851= | |
| XM_024453096.1:c.64986A>C (TTN) | XP_024308864.1:p.Pro21662= | |
| XM_024453097.1:c.62328A>C (TTN) | XP_024308865.1:p.Pro20776= | |
| XM_024453098.1:c.62247A>C (TTN) | XP_024308866.1:p.Pro20749= | |
| XM_024453099.1:c.44010A>C (TTN) | XP_024308867.1:p.Pro14670= | |
| XM_024453100.1:c.33864A>C (TTN) | XP_024308868.1:p.Pro11288= |