Canonical Allele Identifier: CA425343835
Gene: APOB HGNC NCBI

Linked Data

gnomAD v4: 2-21006992-C-T
MyVariant Identifiers: chr2:g.21229864C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21006992C>T , CM000664.2:g.21006992C>T GRCh38
NC_000002.11:g.21229864C>T , CM000664.1:g.21229864C>T GRCh37
NC_000002.10:g.21083369C>T NCBI36
NG_011793.1:g.42082G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.9876G>A MANE Select ENSP00000233242.1:p.Val3292=
ENST00000616098.4:c.9876G>A ENSP00000477990.1:p.Val3292=
NM_000384.2:c.9876G>A NP_000375.2:p.Val3292=
XM_011532809.1:c.5869+3741G>A XP_011531111.1:n.5869+3741G>A
NM_000384.3:c.9876G>A MANE Select NP_000375.3:p.Val3292=