Canonical Allele Identifier: CA425136572
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs1663443937
gnomAD v4: 2-21015494-A-G
MyVariant Identifiers: chr2:g.21238366A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21015494A>G , CM000664.2:g.21015494A>G GRCh38
NC_000002.11:g.21238366A>G , CM000664.1:g.21238366A>G GRCh37
NC_000002.10:g.21091871A>G NCBI36
NG_011793.1:g.33580T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000673739.2:c.*2690T>C ENSP00000501110.2:n.*2690T>C
ENST00000673882.2:c.*2479T>C ENSP00000501253.2:n.*2479T>C
ENST00000673739.1:c.3098T>C ENSP00000501110.1:n.3098T>C
ENST00000673882.1:c.2887T>C ENSP00000501253.1:n.2887T>C
ENST00000233242.5:c.3384T>C MANE Select ENSP00000233242.1:p.Arg1128=
ENST00000616098.4:c.3384T>C ENSP00000477990.1:p.Arg1128=
NM_000384.2:c.3384T>C NP_000375.2:p.Arg1128=
XM_011532809.1:c.3384T>C XP_011531111.1:p.Arg1128=
NM_000384.3:c.3384T>C MANE Select NP_000375.3:p.Arg1128=