Canonical Allele Identifier: CA425136585
Gene: APOB HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.21238381A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21015509A>C , CM000664.2:g.21015509A>C GRCh38
NC_000002.11:g.21238381A>C , CM000664.1:g.21238381A>C GRCh37
NC_000002.10:g.21091886A>C NCBI36
NG_011793.1:g.33565T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000673739.2:c.*2675T>G ENSP00000501110.2:n.*2675T>G
ENST00000673882.2:c.*2464T>G ENSP00000501253.2:n.*2464T>G
ENST00000673739.1:c.3083T>G ENSP00000501110.1:n.3083T>G
ENST00000673882.1:c.2872T>G ENSP00000501253.1:n.2872T>G
ENST00000233242.5:c.3369T>G MANE Select ENSP00000233242.1:p.Val1123=
ENST00000616098.4:c.3369T>G ENSP00000477990.1:p.Val1123=
NM_000384.2:c.3369T>G NP_000375.2:p.Val1123=
XM_011532809.1:c.3369T>G XP_011531111.1:p.Val1123=
NM_000384.3:c.3369T>G MANE Select NP_000375.3:p.Val1123=