Canonical Allele Identifier: CA059365

Gene: APOB

Linked Data

• dbSNP Id: rs747660707
• ExAC: 2:21237901 G / C
• gnomAD v2: 2-21237901-G-C
• gnomAD v3: 2-21015029-G-C
• gnomAD v4: 2-21015029-G-C
• MyVariant Identifiers: chr2:g.21237901G>C (hg19) ; chr2:g.21015029G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21015029G>C , CM000664.2:g.21015029G>C	GRCh38
NC_000002.11:g.21237901G>C , CM000664.1:g.21237901G>C	GRCh37
NC_000002.10:g.21091406G>C	NCBI36
NG_011793.1:g.34045C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673739.2:c.*3002+44C>G	ENSP00000501110.2:n.*3002+44C>G
ENST00000673882.2:c.*2791+44C>G	ENSP00000501253.2:n.*2791+44C>G
ENST00000673739.1:c.3410+44C>G	ENSP00000501110.1:n.3410+44C>G
ENST00000673882.1:c.3199+44C>G	ENSP00000501253.1:n.3199+44C>G
ENST00000233242.5:c.3696+44C>G MANE Select	ENSP00000233242.1:n.3696+44C>G
ENST00000616098.4:c.3696+44C>G	ENSP00000477990.1:n.3696+44C>G
NM_000384.2:c.3696+44C>G	NP_000375.2:n.3696+44C>G
XM_011532809.1:c.3696+44C>G	XP_011531111.1:n.3696+44C>G
NM_000384.3:c.3696+44C>G MANE Select	NP_000375.3:n.3696+44C>G