Canonical Allele Identifier: CA425347273
Gene: APOB HGNC NCBI

Linked Data

gnomAD v4: 2-21015244-T-C
MyVariant Identifiers: chr2:g.21238116T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21015244T>C , CM000664.2:g.21015244T>C GRCh38
NC_000002.11:g.21238116T>C , CM000664.1:g.21238116T>C GRCh37
NC_000002.10:g.21091621T>C NCBI36
NG_011793.1:g.33830A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000673739.2:c.*2831A>G ENSP00000501110.2:n.*2831A>G
ENST00000673882.2:c.*2620A>G ENSP00000501253.2:n.*2620A>G
ENST00000673739.1:c.3239A>G ENSP00000501110.1:n.3239A>G
ENST00000673882.1:c.3028A>G ENSP00000501253.1:n.3028A>G
ENST00000233242.5:c.3525A>G MANE Select ENSP00000233242.1:p.Glu1175=
ENST00000616098.4:c.3525A>G ENSP00000477990.1:p.Glu1175=
NM_000384.2:c.3525A>G NP_000375.2:p.Glu1175=
XM_011532809.1:c.3525A>G XP_011531111.1:p.Glu1175=
NM_000384.3:c.3525A>G MANE Select NP_000375.3:p.Glu1175=