Canonical Allele Identifier: CA530863974

Gene: APOB

Linked Data

• dbSNP Id: rs1229634559
• gnomAD v2: 2-21237756-A-T
• gnomAD v3: 2-21014884-A-T
• gnomAD v4: 2-21014884-A-T
• MyVariant Identifiers: chr2:g.21237756A>T (hg19) ; chr2:g.21014884A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21014884A>T , CM000664.2:g.21014884A>T	GRCh38
NC_000002.11:g.21237756A>T , CM000664.1:g.21237756A>T	GRCh37
NC_000002.10:g.21091261A>T	NCBI36
NG_011793.1:g.34190T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673739.2:c.*3002+189T>A	ENSP00000501110.2:n.*3002+189T>A
ENST00000673882.2:c.*2791+189T>A	ENSP00000501253.2:n.*2791+189T>A
ENST00000673739.1:c.3410+189T>A	ENSP00000501110.1:n.3410+189T>A
ENST00000673882.1:c.3199+189T>A	ENSP00000501253.1:n.3199+189T>A
ENST00000233242.5:c.3696+189T>A MANE Select	ENSP00000233242.1:n.3696+189T>A
ENST00000616098.4:c.3696+189T>A	ENSP00000477990.1:n.3696+189T>A
NM_000384.2:c.3696+189T>A	NP_000375.2:n.3696+189T>A
XM_011532809.1:c.3696+189T>A	XP_011531111.1:n.3696+189T>A
NM_000384.3:c.3696+189T>A MANE Select	NP_000375.3:n.3696+189T>A