Canonical Allele Identifier: CA43488458
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs972943191
gnomAD v4: 2-21002592-G-C
MyVariant Identifiers: chr2:g.21225464G>C (hg19) chr2:g.21002592G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21002592G>C , CM000664.2:g.21002592G>C GRCh38
NC_000002.11:g.21225464G>C , CM000664.1:g.21225464G>C GRCh37
NC_000002.10:g.21078969G>C NCBI36
NG_011793.1:g.46482C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.12830C>G MANE Select ENSP00000233242.1:p.Ser4277Ter
ENST00000616098.4:c.12830C>G ENSP00000477990.1:p.Ser4277Ter
NM_000384.2:c.12830C>G NP_000375.2:p.Ser4277Ter
XM_011532809.1:c.5870-3319C>G XP_011531111.1:n.5870-3319C>G
NM_000384.3:c.12830C>G MANE Select NP_000375.3:p.Ser4277Ter
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