Canonical Allele Identifier: CA345997436
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs1241206050
gnomAD v2: 2-21232433-A-G
gnomAD v4: 2-21009561-A-G
MyVariant Identifiers: chr2:g.21232433A>G (hg19) chr2:g.21009561A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21009561A>G , CM000664.2:g.21009561A>G GRCh38
NC_000002.11:g.21232433A>G , CM000664.1:g.21232433A>G GRCh37
NC_000002.10:g.21085938A>G NCBI36
NG_011793.1:g.39513T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.7307T>C MANE Select ENSP00000233242.1:p.Val2436Ala
ENST00000616098.4:c.7307T>C ENSP00000477990.1:p.Val2436Ala
NM_000384.2:c.7307T>C NP_000375.2:p.Val2436Ala
XM_011532809.1:c.5869+1172T>C XP_011531111.1:n.5869+1172T>C
NM_000384.3:c.7307T>C MANE Select NP_000375.3:p.Val2436Ala
Search 100 bp 5'
Search 100 bp 3'