Canonical Allele Identifier: CA204220

Gene: WWC2

Linked Data

• ClinVar Variation Id: 207935
• ClinVar RCV Id: RCV000190208
• dbSNP Id: rs796052193
• gnomAD v4: 4-183289511-T-C
• MyVariant Identifiers: chr4:g.184210664T>C (hg19) ; chr4:g.183289511T>C (hg38)
• PubMed: PMID:26132555

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.183289511T>C , CM000666.2:g.183289511T>C	GRCh38
NC_000004.11:g.184210664T>C , CM000666.1:g.184210664T>C	GRCh37
NC_000004.10:g.184447658T>C	NCBI36
NG_051586.1:g.195877T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000403733.8:c.3260T>C MANE Select	ENSP00000384222.3:p.Leu1087Pro
ENST00000403733.7:c.3260T>C	ENSP00000384222.3:p.Leu1087Pro
ENST00000427431.5:c.*2652T>C	ENSP00000393342.1:n.*2652T>C
ENST00000438543.5:c.*1056T>C	ENSP00000413521.1:n.*1056T>C
ENST00000448232.6:c.3332T>C	ENSP00000398577.2:p.Leu1111Pro
ENST00000504005.5:c.2306T>C	ENSP00000427569.1:p.Leu769Pro
ENST00000508747.1:c.644T>C	ENSP00000420835.1:p.Leu215Pro
ENST00000513834.5:c.3113T>C	ENSP00000425054.1:p.Leu1038Pro
NM_024949.5:c.3260T>C	NP_079225.5:p.Leu1087Pro
XM_011532269.1:c.3332T>C	XP_011530571.1:p.Leu1111Pro
XM_011532269.3:c.3332T>C	XP_011530571.1:p.Leu1111Pro
XM_024454225.1:c.3038T>C	XP_024309993.1:p.Leu1013Pro
NM_024949.6:c.3260T>C MANE Select	NP_079225.5:p.Leu1087Pro