Canonical Allele Identifier: CA425121250
Gene: APOB HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.21260944A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21038072A>C , CM000664.2:g.21038072A>C GRCh38
NC_000002.11:g.21260944A>C , CM000664.1:g.21260944A>C GRCh37
NC_000002.10:g.21114449A>C NCBI36
NG_011793.1:g.11002T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000673739.2:c.384-817T>G ENSP00000501110.2:n.384-817T>G
ENST00000673882.2:c.384-817T>G ENSP00000501253.2:n.384-817T>G
ENST00000673739.1:c.252-817T>G ENSP00000501110.1:n.252-817T>G
ENST00000673882.1:c.252-817T>G ENSP00000501253.1:n.252-817T>G
ENST00000233242.5:c.423T>G MANE Select ENSP00000233242.1:p.Val141=
ENST00000399256.4:c.423T>G ENSP00000382200.4:p.Val141=
ENST00000616098.4:c.423T>G ENSP00000477990.1:p.Val141=
NM_000384.2:c.423T>G NP_000375.2:p.Val141=
XM_011532809.1:c.423T>G XP_011531111.1:p.Val141=
NM_000384.3:c.423T>G MANE Select NP_000375.3:p.Val141=