Canonical Allele Identifier: CA064341
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs757544634
ExAC: 2:21232387 A / G
gnomAD v2: 2-21232387-A-G
gnomAD v4: 2-21009515-A-G
MyVariant Identifiers: chr2:g.21232387A>G (hg19) chr2:g.21009515A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21009515A>G , CM000664.2:g.21009515A>G GRCh38
NC_000002.11:g.21232387A>G , CM000664.1:g.21232387A>G GRCh37
NC_000002.10:g.21085892A>G NCBI36
NG_011793.1:g.39559T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.7353T>C MANE Select ENSP00000233242.1:p.Asn2451=
ENST00000616098.4:c.7353T>C ENSP00000477990.1:p.Asn2451=
NM_000384.2:c.7353T>C NP_000375.2:p.Asn2451=
XM_011532809.1:c.5869+1218T>C XP_011531111.1:n.5869+1218T>C
NM_000384.3:c.7353T>C MANE Select NP_000375.3:p.Asn2451=
Search 100 bp 5'
Search 100 bp 3'