Canonical Allele Identifier: CA425347278
Gene: APOB HGNC NCBI

Linked Data

gnomAD v4: 2-21015256-T-C
MyVariant Identifiers: chr2:g.21238128T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21015256T>C , CM000664.2:g.21015256T>C GRCh38
NC_000002.11:g.21238128T>C , CM000664.1:g.21238128T>C GRCh37
NC_000002.10:g.21091633T>C NCBI36
NG_011793.1:g.33818A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000673739.2:c.*2819A>G ENSP00000501110.2:n.*2819A>G
ENST00000673882.2:c.*2608A>G ENSP00000501253.2:n.*2608A>G
ENST00000673739.1:c.3227A>G ENSP00000501110.1:n.3227A>G
ENST00000673882.1:c.3016A>G ENSP00000501253.1:n.3016A>G
ENST00000233242.5:c.3513A>G MANE Select ENSP00000233242.1:p.Glu1171=
ENST00000616098.4:c.3513A>G ENSP00000477990.1:p.Glu1171=
NM_000384.2:c.3513A>G NP_000375.2:p.Glu1171=
XM_011532809.1:c.3513A>G XP_011531111.1:p.Glu1171=
NM_000384.3:c.3513A>G MANE Select NP_000375.3:p.Glu1171=