Canonical Allele Identifier: CA3150308
Gene: WWC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2369766
ClinVar RCV Id: RCV004207468
dbSNP Id: rs139606516

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.183289496G>T , CM000666.2:g.183289496G>T GRCh38
NC_000004.11:g.184210649G>T , CM000666.1:g.184210649G>T GRCh37
NC_000004.10:g.184447643G>T NCBI36
NG_051586.1:g.195862G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000403733.8:c.3245G>T MANE Select ENSP00000384222.3:p.Arg1082Leu
ENST00000403733.7:c.3245G>T ENSP00000384222.3:p.Arg1082Leu
ENST00000427431.5:c.*2637G>T ENSP00000393342.1:n.*2637G>T
ENST00000438543.5:c.*1041G>T ENSP00000413521.1:n.*1041G>T
ENST00000448232.6:c.3317G>T ENSP00000398577.2:p.Arg1106Leu
ENST00000504005.5:c.2291G>T ENSP00000427569.1:p.Arg764Leu
ENST00000508747.1:c.629G>T ENSP00000420835.1:p.Arg210Leu
ENST00000513834.5:c.3098G>T ENSP00000425054.1:p.Arg1033Leu
NM_024949.5:c.3245G>T NP_079225.5:p.Arg1082Leu
XM_011532269.1:c.3317G>T XP_011530571.1:p.Arg1106Leu
XM_011532269.3:c.3317G>T XP_011530571.1:p.Arg1106Leu
XM_024454225.1:c.3023G>T XP_024309993.1:p.Arg1008Leu
NM_024949.6:c.3245G>T MANE Select NP_079225.5:p.Arg1082Leu