Canonical Allele Identifier: CA425345334
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs1663246499
MyVariant Identifiers: chr2:g.21232390G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21009518G>A , CM000664.2:g.21009518G>A GRCh38
NC_000002.11:g.21232390G>A , CM000664.1:g.21232390G>A GRCh37
NC_000002.10:g.21085895G>A NCBI36
NG_011793.1:g.39556C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.7350C>T MANE Select ENSP00000233242.1:p.Leu2450=
ENST00000616098.4:c.7350C>T ENSP00000477990.1:p.Leu2450=
NM_000384.2:c.7350C>T NP_000375.2:p.Leu2450=
XM_011532809.1:c.5869+1215C>T XP_011531111.1:n.5869+1215C>T
NM_000384.3:c.7350C>T MANE Select NP_000375.3:p.Leu2450=