Canonical Allele Identifier: CA425136580
Gene: APOB HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.21238375G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21015503G>C , CM000664.2:g.21015503G>C GRCh38
NC_000002.11:g.21238375G>C , CM000664.1:g.21238375G>C GRCh37
NC_000002.10:g.21091880G>C NCBI36
NG_011793.1:g.33571C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000673739.2:c.*2681C>G ENSP00000501110.2:n.*2681C>G
ENST00000673882.2:c.*2470C>G ENSP00000501253.2:n.*2470C>G
ENST00000673739.1:c.3089C>G ENSP00000501110.1:n.3089C>G
ENST00000673882.1:c.2878C>G ENSP00000501253.1:n.2878C>G
ENST00000233242.5:c.3375C>G MANE Select ENSP00000233242.1:p.Ser1125=
ENST00000616098.4:c.3375C>G ENSP00000477990.1:p.Ser1125=
NM_000384.2:c.3375C>G NP_000375.2:p.Ser1125=
XM_011532809.1:c.3375C>G XP_011531111.1:p.Ser1125=
NM_000384.3:c.3375C>G MANE Select NP_000375.3:p.Ser1125=