Canonical Allele Identifier: CA346000196
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs1421302435
gnomAD v2: 2-21232805-T-C
gnomAD v4: 2-21009933-T-C
MyVariant Identifiers: chr2:g.21232805T>C (hg19) chr2:g.21009933T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21009933T>C , CM000664.2:g.21009933T>C GRCh38
NC_000002.11:g.21232805T>C , CM000664.1:g.21232805T>C GRCh37
NC_000002.10:g.21086310T>C NCBI36
NG_011793.1:g.39141A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000233242.5:c.6935A>G MANE Select ENSP00000233242.1:p.Asp2312Gly
ENST00000616098.4:c.6935A>G ENSP00000477990.1:p.Asp2312Gly
NM_000384.2:c.6935A>G NP_000375.2:p.Asp2312Gly
XM_011532809.1:c.5869+800A>G XP_011531111.1:n.5869+800A>G
NM_000384.3:c.6935A>G MANE Select NP_000375.3:p.Asp2312Gly
Search 100 bp 5'
Search 100 bp 3'