Canonical Allele Identifier: CA3150307

Gene: WWC2

Linked Data

• ClinVar Variation Id: 2375939
• ClinVar RCV Id: RCV004213172
• dbSNP Id: rs191286964
• ExAC: 4:184210648 C / T
• gnomAD v2: 4-184210648-C-T
• gnomAD v3: 4-183289495-C-T
• gnomAD v4: 4-183289495-C-T
• COSMIC: COSM3917508 ; COSM3917509 ; COSM3917510
• MyVariant Identifiers: chr4:g.184210648C>T (hg19) ; chr4:g.183289495C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.183289495C>T , CM000666.2:g.183289495C>T	GRCh38
NC_000004.11:g.184210648C>T , CM000666.1:g.184210648C>T	GRCh37
NC_000004.10:g.184447642C>T	NCBI36
NG_051586.1:g.195861C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403733.8:c.3244C>T MANE Select	ENSP00000384222.3:p.Arg1082Cys
ENST00000403733.7:c.3244C>T	ENSP00000384222.3:p.Arg1082Cys
ENST00000427431.5:c.*2636C>T	ENSP00000393342.1:n.*2636C>T
ENST00000438543.5:c.*1040C>T	ENSP00000413521.1:n.*1040C>T
ENST00000448232.6:c.3316C>T	ENSP00000398577.2:p.Arg1106Cys
ENST00000504005.5:c.2290C>T	ENSP00000427569.1:p.Arg764Cys
ENST00000508747.1:c.628C>T	ENSP00000420835.1:p.Arg210Cys
ENST00000513834.5:c.3097C>T	ENSP00000425054.1:p.Arg1033Cys
NM_024949.5:c.3244C>T	NP_079225.5:p.Arg1082Cys
XM_011532269.1:c.3316C>T	XP_011530571.1:p.Arg1106Cys
XM_011532269.3:c.3316C>T	XP_011530571.1:p.Arg1106Cys
XM_024454225.1:c.3022C>T	XP_024309993.1:p.Arg1008Cys
NM_024949.6:c.3244C>T MANE Select	NP_079225.5:p.Arg1082Cys