Canonical Allele Identifier: CA358846040
Gene: WWC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.183289499T>G , CM000666.2:g.183289499T>G GRCh38
NC_000004.11:g.184210652T>G , CM000666.1:g.184210652T>G GRCh37
NC_000004.10:g.184447646T>G NCBI36
NG_051586.1:g.195865T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000403733.8:c.3248T>G MANE Select ENSP00000384222.3:p.Leu1083Arg
ENST00000403733.7:c.3248T>G ENSP00000384222.3:p.Leu1083Arg
ENST00000427431.5:c.*2640T>G ENSP00000393342.1:n.*2640T>G
ENST00000438543.5:c.*1044T>G ENSP00000413521.1:n.*1044T>G
ENST00000448232.6:c.3320T>G ENSP00000398577.2:p.Leu1107Arg
ENST00000504005.5:c.2294T>G ENSP00000427569.1:p.Leu765Arg
ENST00000508747.1:c.632T>G ENSP00000420835.1:p.Leu211Arg
ENST00000513834.5:c.3101T>G ENSP00000425054.1:p.Leu1034Arg
NM_024949.5:c.3248T>G NP_079225.5:p.Leu1083Arg
XM_011532269.1:c.3320T>G XP_011530571.1:p.Leu1107Arg
XM_011532269.3:c.3320T>G XP_011530571.1:p.Leu1107Arg
XM_024454225.1:c.3026T>G XP_024309993.1:p.Leu1009Arg
NM_024949.6:c.3248T>G MANE Select NP_079225.5:p.Leu1083Arg