Canonical Allele Identifier: CA3150310

Gene: WWC2

Linked Data

• dbSNP Id: rs751009182
• ExAC: 4:184210651 C / G
• gnomAD v2: 4-184210651-C-G
• gnomAD v3: 4-183289498-C-G
• gnomAD v4: 4-183289498-C-G
• MyVariant Identifiers: chr4:g.184210651C>G (hg19) ; chr4:g.183289498C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.183289498C>G , CM000666.2:g.183289498C>G	GRCh38
NC_000004.11:g.184210651C>G , CM000666.1:g.184210651C>G	GRCh37
NC_000004.10:g.184447645C>G	NCBI36
NG_051586.1:g.195864C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403733.8:c.3247C>G MANE Select	ENSP00000384222.3:p.Leu1083Val
ENST00000403733.7:c.3247C>G	ENSP00000384222.3:p.Leu1083Val
ENST00000427431.5:c.*2639C>G	ENSP00000393342.1:n.*2639C>G
ENST00000438543.5:c.*1043C>G	ENSP00000413521.1:n.*1043C>G
ENST00000448232.6:c.3319C>G	ENSP00000398577.2:p.Leu1107Val
ENST00000504005.5:c.2293C>G	ENSP00000427569.1:p.Leu765Val
ENST00000508747.1:c.631C>G	ENSP00000420835.1:p.Leu211Val
ENST00000513834.5:c.3100C>G	ENSP00000425054.1:p.Leu1034Val
NM_024949.5:c.3247C>G	NP_079225.5:p.Leu1083Val
XM_011532269.1:c.3319C>G	XP_011530571.1:p.Leu1107Val
XM_011532269.3:c.3319C>G	XP_011530571.1:p.Leu1107Val
XM_024454225.1:c.3025C>G	XP_024309993.1:p.Leu1009Val
NM_024949.6:c.3247C>G MANE Select	NP_079225.5:p.Leu1083Val