Canonical Allele Identifier: CA425345224
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 548065
ClinVar RCV Id: RCV000660699
dbSNP Id: rs1553383536
gnomAD v4: 2-21009572-G-A
MyVariant Identifiers: chr2:g.21232444G>A (hg19) chr2:g.21009572G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21009572G>A , CM000664.2:g.21009572G>A GRCh38
NC_000002.11:g.21232444G>A , CM000664.1:g.21232444G>A GRCh37
NC_000002.10:g.21085949G>A NCBI36
NG_011793.1:g.39502C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.7296C>T MANE Select ENSP00000233242.1:p.Tyr2432=
ENST00000616098.4:c.7296C>T ENSP00000477990.1:p.Tyr2432=
NM_000384.2:c.7296C>T NP_000375.2:p.Tyr2432=
XM_011532809.1:c.5869+1161C>T XP_011531111.1:n.5869+1161C>T
NM_000384.3:c.7296C>T MANE Select NP_000375.3:p.Tyr2432=
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