Canonical Allele Identifier: CA051226
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs1801702
ExAC: 2:21225485 C / T
gnomAD v2: 2-21225485-C-T
gnomAD v4: 2-21002613-C-T
MyVariant Identifiers: chr2:g.21225485C>T (hg19) chr2:g.21002613C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21002613C>T , CM000664.2:g.21002613C>T GRCh38
NC_000002.11:g.21225485C>T , CM000664.1:g.21225485C>T GRCh37
NC_000002.10:g.21078990C>T NCBI36
NG_011793.1:g.46461G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.12809G>A MANE Select ENSP00000233242.1:p.Arg4270Lys
ENST00000616098.4:c.12809G>A ENSP00000477990.1:p.Arg4270Lys
NM_000384.2:c.12809G>A NP_000375.2:p.Arg4270Lys
XM_011532809.1:c.5870-3340G>A XP_011531111.1:n.5870-3340G>A
NM_000384.3:c.12809G>A MANE Select NP_000375.3:p.Arg4270Lys
Search 100 bp 5'
Search 100 bp 3'