Canonical Allele Identifier: CA3150326

Gene: WWC2

Linked Data

• dbSNP Id: rs752820319
• ExAC: 4:184210738 G / T
• gnomAD v2: 4-184210738-G-T
• gnomAD v3: 4-183289585-G-T
• gnomAD v4: 4-183289585-G-T
• MyVariant Identifiers: chr4:g.184210738G>T (hg19) ; chr4:g.183289585G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.183289585G>T , CM000666.2:g.183289585G>T	GRCh38
NC_000004.11:g.184210738G>T , CM000666.1:g.184210738G>T	GRCh37
NC_000004.10:g.184447732G>T	NCBI36
NG_051586.1:g.195951G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403733.8:c.3334G>T MANE Select	ENSP00000384222.3:p.Val1112Leu
ENST00000403733.7:c.3334G>T	ENSP00000384222.3:p.Val1112Leu
ENST00000427431.5:c.*2726G>T	ENSP00000393342.1:n.*2726G>T
ENST00000438543.5:c.*1130G>T	ENSP00000413521.1:n.*1130G>T
ENST00000448232.6:c.3406G>T	ENSP00000398577.2:p.Val1136Leu
ENST00000504005.5:c.2380G>T	ENSP00000427569.1:p.Val794Leu
ENST00000508747.1:c.718G>T	ENSP00000420835.1:p.Val240Leu
ENST00000513834.5:c.3187G>T	ENSP00000425054.1:p.Val1063Leu
NM_024949.5:c.3334G>T	NP_079225.5:p.Val1112Leu
XM_011532269.1:c.3406G>T	XP_011530571.1:p.Val1136Leu
XM_011532269.3:c.3406G>T	XP_011530571.1:p.Val1136Leu
XM_024454225.1:c.3112G>T	XP_024309993.1:p.Val1038Leu
NM_024949.6:c.3334G>T MANE Select	NP_079225.5:p.Val1112Leu