Canonical Allele Identifier: CA2838206435
Gene: BLTP2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.28637991dup , CM000679.2:g.28637991dup GRCh38
NC_000017.10:g.26965009dup , CM000679.1:g.26965009dup GRCh37
NC_000017.9:g.23989136dup NCBI36
NG_053109.1:g.12466dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000528896.7:c.1618dup MANE Select ENSP00000436773.2:p.Gln540ProfsTer21
ENST00000389003.7:c.1189dup ENSP00000467716.1:p.Gln397ProfsTer21
ENST00000528896.6:c.1618dup ENSP00000436773.2:p.Gln540ProfsTer21
ENST00000544884.5:c.1189dup ENSP00000446443.1:p.Gln397ProfsTer21
NM_014680.3:c.1618dup NP_055495.2:p.Gln540ProfsTer21
XM_005258073.2:c.1618dup XP_005258130.1:p.Gln540ProfsTer21
XM_006722198.2:c.1189dup XP_006722261.1:p.Gln397ProfsTer21
XR_429933.1:n.1716dup
NM_001321560.1:c.1618dup NP_001308489.1:p.Gln540ProfsTer21
NM_001363826.1:c.1189dup NP_001350755.1:p.Gln397ProfsTer21
NM_001363827.1:c.613dup NP_001350756.1:p.Gln205ProfsTer21
NM_001363828.1:c.-202dup NP_001350757.1:n.-202dup
NM_001363829.1:c.-576dup NP_001350758.1:n.-576dup
NM_014680.4:c.1618dup NP_055495.2:p.Gln540ProfsTer21
XR_002958095.1:n.1716dup
NM_014680.5:c.1618dup MANE Select NP_055495.2:p.Gln540ProfsTer21
NM_001321560.2:c.1618dup NP_001308489.1:p.Gln540ProfsTer21
Search 100 bp 5'
Search 100 bp 3'