Canonical Allele Identifier: CA1681992

Gene: WDPCP

Linked Data

• ClinVar Variation Id: 1347281
• ClinVar RCV Id: RCV002033067 ; RCV002545632
• dbSNP Id: rs772286167
• ExAC: 2:63380641 C / T
• gnomAD v2: 2-63380641-C-T
• gnomAD v3: 2-63153506-C-T
• gnomAD v4: 2-63153506-C-T
• COSMIC: COSM3799112
• MyVariant Identifiers: chr2:g.63380641C>T (hg19) ; chr2:g.63153506C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.63153506C>T , CM000664.2:g.63153506C>T	GRCh38
NC_000002.11:g.63380641C>T , CM000664.1:g.63380641C>T	GRCh37
NC_000002.10:g.63234145C>T	NCBI36
NG_028144.1:g.440227G>A
NG_028144.2:g.692320G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272321.12:c.2147G>A MANE Select	ENSP00000272321.7:p.Cys716Tyr
ENST00000272321.11:c.2147G>A	ENSP00000272321.7:p.Cys716Tyr
ENST00000398544.7:c.1670G>A	ENSP00000381552.3:p.Cys557Tyr
ENST00000409120.5:c.1571G>A	ENSP00000386769.1:p.Cys524Tyr
ENST00000409199.5:c.1571G>A	ENSP00000386592.1:p.Cys524Tyr
ENST00000409354.6:c.1405G>A	ENSP00000386795.2:n.1405G>A
NM_001042692.2:c.1670G>A	NP_001036157.1:p.Cys557Tyr
NM_015910.5:c.2147G>A	NP_056994.3:p.Cys716Tyr
NR_122106.1:n.1790G>A
XM_005264348.2:c.2079-561G>A	XP_005264405.1:n.2079-561G>A
XM_011532881.1:c.2007-561G>A	XP_011531183.1:n.2007-561G>A
XM_011532882.1:c.1980-561G>A	XP_011531184.1:n.1980-561G>A
XM_011532883.1:c.2147G>A	XP_011531185.1:p.Cys716Tyr
XR_244934.1:n.2390G>A
XR_244935.1:n.2291G>A
NM_001042692.3:c.1670G>A	NP_001036157.1:p.Cys557Tyr
NM_001354044.1:c.2075G>A	NP_001340973.1:p.Cys692Tyr
NM_015910.6:c.2147G>A	NP_056994.3:p.Cys716Tyr
NR_122106.2:n.1790G>A
NR_148704.1:n.2923G>A
NR_148705.1:n.2572G>A
XM_005264348.4:c.2079-561G>A	XP_005264405.1:n.2079-561G>A
XM_011532881.3:c.2007-561G>A	XP_011531183.1:n.2007-561G>A
XR_001738759.2:n.2438-561G>A
XR_001738760.2:n.2604G>A
XR_002959303.1:n.2843G>A
XR_244934.3:n.2605G>A
NM_015910.7:c.2147G>A MANE Select	NP_056994.3:p.Cys716Tyr
NM_001354044.2:c.2075G>A	NP_001340973.1:p.Cys692Tyr
NR_148704.2:n.2601G>A
NR_148705.2:n.2250G>A