Canonical Allele Identifier: CA384521862
Community Standard Title: NM_001844.5(COL2A1):c.920T>G (p.Val307Gly)
Gene: COL2A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47993813A>C , CM000674.2:g.47993813A>C GRCh38
NC_000012.11:g.48387596A>C , CM000674.1:g.48387596A>C GRCh37
NC_000012.10:g.46673863A>C NCBI36
NG_008072.1:g.15690T>G

Transcript Alleles

HGVS Amino-acid Change
NM_001844.5:c.920T>G MANE Select NP_001835.3:p.Val307Gly
ENST00000380518.8:c.920T>G MANE Select ENSP00000369889.3:p.Val307Gly
NM_001844.4:c.920T>G NP_001835.3:p.Val307Gly
NM_033150.2:c.713T>G NP_149162.2:p.Val238Gly
NM_033150.3:c.713T>G NP_149162.2:p.Val238Gly
ENST00000337299.6:c.713T>G ENSP00000338213.6:p.Val238Gly
ENST00000337299.7:c.713T>G ENSP00000338213.6:p.Val238Gly
ENST00000380518.7:c.920T>G ENSP00000369889.3:p.Val307Gly
XM_006719242.2:c.1064T>G XP_006719305.2:p.Val355Gly
XM_011537928.1:c.1064T>G XP_011536230.1:p.Val355Gly
XM_011537929.1:c.1064T>G XP_011536231.1:p.Val355Gly
XM_011537930.1:c.1064T>G XP_011536232.1:p.Val355Gly
XM_011537931.1:c.1064T>G XP_011536233.1:p.Val355Gly
XM_011537932.1:c.1064T>G XP_011536234.1:p.Val355Gly
XM_011537933.1:c.1064T>G XP_011536235.1:p.Val355Gly
XM_011537934.1:c.1061T>G XP_011536236.1:p.Val354Gly
XM_017018828.1:c.1064T>G XP_016874317.1:p.Val355Gly
XM_017018829.1:c.1061T>G XP_016874318.1:p.Val354Gly
XM_017018830.1:c.854T>G XP_016874319.1:p.Val285Gly
XM_017018831.2:c.374T>G XP_016874320.1:p.Val125Gly
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