Canonical Allele Identifier: CA425136538

Gene: APOB

Linked Data

• dbSNP Id: rs1663442417
• gnomAD v3: 2-21015440-C-G
• gnomAD v4: 2-21015440-C-G
• MyVariant Identifiers: chr2:g.21238312C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21015440C>G , CM000664.2:g.21015440C>G	GRCh38
NC_000002.11:g.21238312C>G , CM000664.1:g.21238312C>G	GRCh37
NC_000002.10:g.21091817C>G	NCBI36
NG_011793.1:g.33634G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673739.2:c.*2744G>C	ENSP00000501110.2:n.*2744G>C
ENST00000673882.2:c.*2533G>C	ENSP00000501253.2:n.*2533G>C
ENST00000673739.1:c.3152G>C	ENSP00000501110.1:n.3152G>C
ENST00000673882.1:c.2941G>C	ENSP00000501253.1:n.2941G>C
ENST00000233242.5:c.3438G>C MANE Select	ENSP00000233242.1:p.Leu1146=
ENST00000616098.4:c.3438G>C	ENSP00000477990.1:p.Leu1146=
NM_000384.2:c.3438G>C	NP_000375.2:p.Leu1146=
XM_011532809.1:c.3438G>C	XP_011531111.1:p.Leu1146=
NM_000384.3:c.3438G>C MANE Select	NP_000375.3:p.Leu1146=