Canonical Allele Identifier: CA062735
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs773502213
ExAC: 2:21233733 C / T
gnomAD v2: 2-21233733-C-T
gnomAD v4: 2-21010861-C-T
MyVariant Identifiers: chr2:g.21233733C>T (hg19) chr2:g.21010861C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21010861C>T , CM000664.2:g.21010861C>T GRCh38
NC_000002.11:g.21233733C>T , CM000664.1:g.21233733C>T GRCh37
NC_000002.10:g.21087238C>T NCBI36
NG_011793.1:g.38213G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.6007G>A MANE Select ENSP00000233242.1:p.Asp2003Asn
ENST00000616098.4:c.6007G>A ENSP00000477990.1:p.Asp2003Asn
NM_000384.2:c.6007G>A NP_000375.2:p.Asp2003Asn
XM_011532809.1:c.5865-124G>A XP_011531111.1:n.5865-124G>A
NM_000384.3:c.6007G>A MANE Select NP_000375.3:p.Asp2003Asn
Search 100 bp 5'
Search 100 bp 3'