Canonical Allele Identifier: CA358845842

Gene: WWC2

Linked Data

• gnomAD v4: 4-183289451-T-G
• MyVariant Identifiers: chr4:g.184210604T>G (hg19) ; chr4:g.183289451T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.183289451T>G , CM000666.2:g.183289451T>G	GRCh38
NC_000004.11:g.184210604T>G , CM000666.1:g.184210604T>G	GRCh37
NC_000004.10:g.184447598T>G	NCBI36
NG_051586.1:g.195817T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403733.8:c.3200T>G MANE Select	ENSP00000384222.3:p.Leu1067Arg
ENST00000403733.7:c.3200T>G	ENSP00000384222.3:p.Leu1067Arg
ENST00000427431.5:c.*2592T>G	ENSP00000393342.1:n.*2592T>G
ENST00000438543.5:c.*996T>G	ENSP00000413521.1:n.*996T>G
ENST00000448232.6:c.3272T>G	ENSP00000398577.2:p.Leu1091Arg
ENST00000504005.5:c.2246T>G	ENSP00000427569.1:p.Leu749Arg
ENST00000508747.1:c.584T>G	ENSP00000420835.1:p.Leu195Arg
ENST00000513834.5:c.3053T>G	ENSP00000425054.1:p.Leu1018Arg
NM_024949.5:c.3200T>G	NP_079225.5:p.Leu1067Arg
XM_011532269.1:c.3272T>G	XP_011530571.1:p.Leu1091Arg
XM_011532269.3:c.3272T>G	XP_011530571.1:p.Leu1091Arg
XM_024454225.1:c.2978T>G	XP_024309993.1:p.Leu993Arg
NM_024949.6:c.3200T>G MANE Select	NP_079225.5:p.Leu1067Arg