Canonical Allele Identifier: CA531305996
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs188019153
gnomAD v2: 2-21224571-A-C
gnomAD v4: 2-21001699-A-C
MyVariant Identifiers: chr2:g.21224571A>C (hg19) chr2:g.21001699A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21001699A>C , CM000664.2:g.21001699A>C GRCh38
NC_000002.11:g.21224571A>C , CM000664.1:g.21224571A>C GRCh37
NC_000002.10:g.21078076A>C NCBI36
NG_011793.1:g.47375T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.*31T>G MANE Select ENSP00000233242.1:n.*31T>G
ENST00000616098.4:c.13721T>G ENSP00000477990.1:n.13721T>G
NM_000384.2:c.*31T>G NP_000375.2:n.*31T>G
XM_011532809.1:c.5870-2426T>G XP_011531111.1:n.5870-2426T>G
NM_000384.3:c.*31T>G MANE Select NP_000375.3:n.*31T>G
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