Canonical Allele Identifier: CA058960

Gene: APOB

Linked Data

• ClinVar Variation Id: 390630
• ClinVar RCV Id: RCV000433113 ; RCV001837896 ; RCV002451041 ; RCV001726174
• dbSNP Id: rs141763789
• ExAC: 2:21238243 A / G
• gnomAD v2: 2-21238243-A-G
• gnomAD v3: 2-21015371-A-G
• gnomAD v4: 2-21015371-A-G
• MyVariant Identifiers: chr2:g.21238243A>G (hg19) ; chr2:g.21015371A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21015371A>G , CM000664.2:g.21015371A>G	GRCh38
NC_000002.11:g.21238243A>G , CM000664.1:g.21238243A>G	GRCh37
NC_000002.10:g.21091748A>G	NCBI36
NG_011793.1:g.33703T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673739.2:c.*2813T>C	ENSP00000501110.2:n.*2813T>C
ENST00000673882.2:c.*2602T>C	ENSP00000501253.2:n.*2602T>C
ENST00000673739.1:c.3221T>C	ENSP00000501110.1:n.3221T>C
ENST00000673882.1:c.3010T>C	ENSP00000501253.1:n.3010T>C
ENST00000233242.5:c.3507T>C MANE Select	ENSP00000233242.1:p.Tyr1169=
ENST00000616098.4:c.3507T>C	ENSP00000477990.1:p.Tyr1169=
NM_000384.2:c.3507T>C	NP_000375.2:p.Tyr1169=
XM_011532809.1:c.3507T>C	XP_011531111.1:p.Tyr1169=
NM_000384.3:c.3507T>C MANE Select	NP_000375.3:p.Tyr1169=