Canonical Allele Identifier: CA3150303

Gene: WWC2

Linked Data

• dbSNP Id: rs201203992
• ExAC: 4:184210639 C / T
• gnomAD v2: 4-184210639-C-T
• gnomAD v3: 4-183289486-C-T
• gnomAD v4: 4-183289486-C-T
• MyVariant Identifiers: chr4:g.184210639C>T (hg19) ; chr4:g.183289486C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.183289486C>T , CM000666.2:g.183289486C>T	GRCh38
NC_000004.11:g.184210639C>T , CM000666.1:g.184210639C>T	GRCh37
NC_000004.10:g.184447633C>T	NCBI36
NG_051586.1:g.195852C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403733.8:c.3235C>T MANE Select	ENSP00000384222.3:p.Arg1079Trp
ENST00000403733.7:c.3235C>T	ENSP00000384222.3:p.Arg1079Trp
ENST00000427431.5:c.*2627C>T	ENSP00000393342.1:n.*2627C>T
ENST00000438543.5:c.*1031C>T	ENSP00000413521.1:n.*1031C>T
ENST00000448232.6:c.3307C>T	ENSP00000398577.2:p.Arg1103Trp
ENST00000504005.5:c.2281C>T	ENSP00000427569.1:p.Arg761Trp
ENST00000508747.1:c.619C>T	ENSP00000420835.1:p.Arg207Trp
ENST00000513834.5:c.3088C>T	ENSP00000425054.1:p.Arg1030Trp
NM_024949.5:c.3235C>T	NP_079225.5:p.Arg1079Trp
XM_011532269.1:c.3307C>T	XP_011530571.1:p.Arg1103Trp
XM_011532269.3:c.3307C>T	XP_011530571.1:p.Arg1103Trp
XM_024454225.1:c.3013C>T	XP_024309993.1:p.Arg1005Trp
NM_024949.6:c.3235C>T MANE Select	NP_079225.5:p.Arg1079Trp