Canonical Allele Identifier: CA43513771

Gene: APOB

Linked Data

• dbSNP Id: rs570110753
• gnomAD v2: 2-21238180-A-G
• gnomAD v3: 2-21015308-A-G
• gnomAD v4: 2-21015308-A-G
• MyVariant Identifiers: chr2:g.21238180A>G (hg19) ; chr2:g.21015308A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21015308A>G , CM000664.2:g.21015308A>G	GRCh38
NC_000002.11:g.21238180A>G , CM000664.1:g.21238180A>G	GRCh37
NC_000002.10:g.21091685A>G	NCBI36
NG_011793.1:g.33766T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673739.2:c.*2815-48T>C	ENSP00000501110.2:n.*2815-48T>C
ENST00000673882.2:c.*2604-48T>C	ENSP00000501253.2:n.*2604-48T>C
ENST00000673739.1:c.3223-48T>C	ENSP00000501110.1:n.3223-48T>C
ENST00000673882.1:c.3012-48T>C	ENSP00000501253.1:n.3012-48T>C
ENST00000233242.5:c.3509-48T>C MANE Select	ENSP00000233242.1:n.3509-48T>C
ENST00000616098.4:c.3509-48T>C	ENSP00000477990.1:n.3509-48T>C
NM_000384.2:c.3509-48T>C	NP_000375.2:n.3509-48T>C
XM_011532809.1:c.3509-48T>C	XP_011531111.1:n.3509-48T>C
NM_000384.3:c.3509-48T>C MANE Select	NP_000375.3:n.3509-48T>C