Canonical Allele Identifier: CA13428891

Gene: POU2AF2

Linked Data

• dbSNP Id: rs7130173
• gnomAD v2: 11-111154072-A-C
• gnomAD v3: 11-111283347-A-C
• gnomAD v4: 11-111283347-A-C
• MyVariant Identifiers: chr11:g.111154072A>C (hg19) ; chr11:g.111283347A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.111283347A>C , CM000673.2:g.111283347A>C	GRCh38
NC_000011.9:g.111154072A>C , CM000673.1:g.111154072A>C	GRCh37
NC_000011.8:g.110659282A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000280325.7:c.164-729A>C MANE Select	ENSP00000280325.6:n.164-729A>C
ENST00000280325.6:c.164-729A>C	ENSP00000280325.6:n.164-729A>C
ENST00000635886.1:c.121-729A>C	ENSP00000489980.1:n.121-729A>C
ENST00000637637.1:c.8-729A>C	ENSP00000489630.1:n.8-729A>C
ENST00000667535.1:n.154-729A>C
ENST00000280325.4:c.8-729A>C	ENSP00000280325.4:n.8-729A>C
NM_198498.2:c.8-729A>C	NP_940900.1:n.8-729A>C
XM_011542803.1:c.164-729A>C	XP_011541105.1:n.164-729A>C
XM_011542804.1:c.8-729A>C	XP_011541106.1:n.8-729A>C
XM_011542803.2:c.164-729A>C	XP_011541105.1:n.164-729A>C
XM_011542804.2:c.8-729A>C	XP_011541106.1:n.8-729A>C
NM_198498.3:c.164-729A>C MANE Select	NP_940900.2:n.164-729A>C