Canonical Allele Identifier: CA425345218
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 2925971
ClinVar RCV Id: RCV003786257
dbSNP Id: rs1558563624
gnomAD v2: 2-21232441-G-A
gnomAD v4: 2-21009569-G-A
MyVariant Identifiers: chr2:g.21232441G>A (hg19) chr2:g.21232441_21232442delinsAT (hg19) chr2:g.21009569_21009570delinsAT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21009569G>A , CM000664.2:g.21009569G>A GRCh38
NC_000002.11:g.21232441G>A , CM000664.1:g.21232441G>A GRCh37
NC_000002.10:g.21085946G>A NCBI36
NG_011793.1:g.39505C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.7299C>T MANE Select ENSP00000233242.1:p.His2433=
ENST00000616098.4:c.7299C>T ENSP00000477990.1:p.His2433=
NM_000384.2:c.7299C>T NP_000375.2:p.His2433=
XM_011532809.1:c.5869+1164C>T XP_011531111.1:n.5869+1164C>T
NM_000384.3:c.7299C>T MANE Select NP_000375.3:p.His2433=
Search 100 bp 5'
Search 100 bp 3'