Canonical Allele Identifier: CA345977132
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs1558560347
gnomAD v2: 2-21227951-C-A
gnomAD v3: 2-21005079-C-A
gnomAD v4: 2-21005079-C-A
MyVariant Identifiers: chr2:g.21227951C>A (hg19) chr2:g.21005079C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21005079C>A , CM000664.2:g.21005079C>A GRCh38
NC_000002.11:g.21227951C>A , CM000664.1:g.21227951C>A GRCh37
NC_000002.10:g.21081456C>A NCBI36
NG_011793.1:g.43995G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000233242.5:c.11788+1G>T MANE Select ENSP00000233242.1:n.11788+1G>T
ENST00000616098.4:c.11788+1G>T ENSP00000477990.1:n.11788+1G>T
NM_000384.2:c.11788+1G>T NP_000375.2:n.11788+1G>T
XM_011532809.1:c.5869+5654G>T XP_011531111.1:n.5869+5654G>T
NM_000384.3:c.11788+1G>T MANE Select NP_000375.3:n.11788+1G>T
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