Canonical Allele Identifier: CA3150297

Gene: WWC2

Linked Data

• ClinVar Variation Id: 2262387
• ClinVar RCV Id: RCV004117947
• dbSNP Id: rs138014876
• ExAC: 4:184210595 G / A
• gnomAD v2: 4-184210595-G-A
• gnomAD v3: 4-183289442-G-A
• gnomAD v4: 4-183289442-G-A
• MyVariant Identifiers: chr4:g.184210595G>A (hg19) ; chr4:g.183289442G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.183289442G>A , CM000666.2:g.183289442G>A	GRCh38
NC_000004.11:g.184210595G>A , CM000666.1:g.184210595G>A	GRCh37
NC_000004.10:g.184447589G>A	NCBI36
NG_051586.1:g.195808G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403733.8:c.3191G>A MANE Select	ENSP00000384222.3:p.Arg1064Gln
ENST00000403733.7:c.3191G>A	ENSP00000384222.3:p.Arg1064Gln
ENST00000427431.5:c.*2583G>A	ENSP00000393342.1:n.*2583G>A
ENST00000438543.5:c.*987G>A	ENSP00000413521.1:n.*987G>A
ENST00000448232.6:c.3263G>A	ENSP00000398577.2:p.Arg1088Gln
ENST00000504005.5:c.2237G>A	ENSP00000427569.1:p.Arg746Gln
ENST00000508747.1:c.575G>A	ENSP00000420835.1:p.Arg192Gln
ENST00000513834.5:c.3044G>A	ENSP00000425054.1:p.Arg1015Gln
NM_024949.5:c.3191G>A	NP_079225.5:p.Arg1064Gln
XM_011532269.1:c.3263G>A	XP_011530571.1:p.Arg1088Gln
XM_011532269.3:c.3263G>A	XP_011530571.1:p.Arg1088Gln
XM_024454225.1:c.2969G>A	XP_024309993.1:p.Arg990Gln
NM_024949.6:c.3191G>A MANE Select	NP_079225.5:p.Arg1064Gln