Canonical Allele Identifier: CA3150318

Gene: WWC2

Linked Data

• dbSNP Id: rs769634252
• ExAC: 4:184210685 G / A
• gnomAD v2: 4-184210685-G-A
• gnomAD v4: 4-183289532-G-A
• COSMIC: COSM6166932 ; COSM6166933 ; COSM6166934
• MyVariant Identifiers: chr4:g.184210685G>A (hg19) ; chr4:g.183289532G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.183289532G>A , CM000666.2:g.183289532G>A	GRCh38
NC_000004.11:g.184210685G>A , CM000666.1:g.184210685G>A	GRCh37
NC_000004.10:g.184447679G>A	NCBI36
NG_051586.1:g.195898G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403733.8:c.3281G>A MANE Select	ENSP00000384222.3:p.Arg1094Gln
ENST00000403733.7:c.3281G>A	ENSP00000384222.3:p.Arg1094Gln
ENST00000427431.5:c.*2673G>A	ENSP00000393342.1:n.*2673G>A
ENST00000438543.5:c.*1077G>A	ENSP00000413521.1:n.*1077G>A
ENST00000448232.6:c.3353G>A	ENSP00000398577.2:p.Arg1118Gln
ENST00000504005.5:c.2327G>A	ENSP00000427569.1:p.Arg776Gln
ENST00000508747.1:c.665G>A	ENSP00000420835.1:p.Arg222Gln
ENST00000513834.5:c.3134G>A	ENSP00000425054.1:p.Arg1045Gln
NM_024949.5:c.3281G>A	NP_079225.5:p.Arg1094Gln
XM_011532269.1:c.3353G>A	XP_011530571.1:p.Arg1118Gln
XM_011532269.3:c.3353G>A	XP_011530571.1:p.Arg1118Gln
XM_024454225.1:c.3059G>A	XP_024309993.1:p.Arg1020Gln
NM_024949.6:c.3281G>A MANE Select	NP_079225.5:p.Arg1094Gln