Canonical Allele Identifier: CA064251
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs776807669
ExAC: 2:21232491 T / G
gnomAD v2: 2-21232491-T-G
gnomAD v4: 2-21009619-T-G
MyVariant Identifiers: chr2:g.21232491T>G (hg19) chr2:g.21009619T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21009619T>G , CM000664.2:g.21009619T>G GRCh38
NC_000002.11:g.21232491T>G , CM000664.1:g.21232491T>G GRCh37
NC_000002.10:g.21085996T>G NCBI36
NG_011793.1:g.39455A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.7249A>C MANE Select ENSP00000233242.1:p.Asn2417His
ENST00000616098.4:c.7249A>C ENSP00000477990.1:p.Asn2417His
NM_000384.2:c.7249A>C NP_000375.2:p.Asn2417His
XM_011532809.1:c.5869+1114A>C XP_011531111.1:n.5869+1114A>C
NM_000384.3:c.7249A>C MANE Select NP_000375.3:p.Asn2417His
Search 100 bp 5'
Search 100 bp 3'