Canonical Allele Identifier: CA345977652
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs1296396685
gnomAD v2: 2-21228038-C-G
gnomAD v4: 2-21005166-C-G
MyVariant Identifiers: chr2:g.21228038C>G (hg19) chr2:g.21005166C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21005166C>G , CM000664.2:g.21005166C>G GRCh38
NC_000002.11:g.21228038C>G , CM000664.1:g.21228038C>G GRCh37
NC_000002.10:g.21081543C>G NCBI36
NG_011793.1:g.43908G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000233242.5:c.11702G>C MANE Select ENSP00000233242.1:p.Ser3901Thr
ENST00000616098.4:c.11702G>C ENSP00000477990.1:p.Ser3901Thr
NM_000384.2:c.11702G>C NP_000375.2:p.Ser3901Thr
XM_011532809.1:c.5869+5567G>C XP_011531111.1:n.5869+5567G>C
NM_000384.3:c.11702G>C MANE Select NP_000375.3:p.Ser3901Thr
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