Canonical Allele Identifier: CA1682000

Gene: WDPCP

Linked Data

• ClinVar Variation Id: 336760
• ClinVar RCV Id: RCV000318207 ; RCV001413862 ; RCV002519984 ; RCV003932339
• dbSNP Id: rs200378703
• ExAC: 2:63380675 C / A
• gnomAD v2: 2-63380675-C-A
• gnomAD v3: 2-63153540-C-A
• gnomAD v4: 2-63153540-C-A
• MyVariant Identifiers: chr2:g.63380675C>A (hg19) ; chr2:g.63153540C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.63153540C>A , CM000664.2:g.63153540C>A	GRCh38
NC_000002.11:g.63380675C>A , CM000664.1:g.63380675C>A	GRCh37
NC_000002.10:g.63234179C>A	NCBI36
NG_028144.1:g.440193G>T
NG_028144.2:g.692286G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272321.12:c.2113G>T MANE Select	ENSP00000272321.7:p.Asp705Tyr
ENST00000272321.11:c.2113G>T	ENSP00000272321.7:p.Asp705Tyr
ENST00000398544.7:c.1636G>T	ENSP00000381552.3:p.Asp546Tyr
ENST00000409120.5:c.1537G>T	ENSP00000386769.1:p.Asp513Tyr
ENST00000409199.5:c.1537G>T	ENSP00000386592.1:p.Asp513Tyr
ENST00000409354.6:c.1371G>T	ENSP00000386795.2:n.1371G>T
NM_001042692.2:c.1636G>T	NP_001036157.1:p.Asp546Tyr
NM_015910.5:c.2113G>T	NP_056994.3:p.Asp705Tyr
NR_122106.1:n.1756G>T
XM_005264348.2:c.2079-595G>T	XP_005264405.1:n.2079-595G>T
XM_011532881.1:c.2007-595G>T	XP_011531183.1:n.2007-595G>T
XM_011532882.1:c.1980-595G>T	XP_011531184.1:n.1980-595G>T
XM_011532883.1:c.2113G>T	XP_011531185.1:p.Asp705Tyr
XR_244934.1:n.2356G>T
XR_244935.1:n.2257G>T
NM_001042692.3:c.1636G>T	NP_001036157.1:p.Asp546Tyr
NM_001354044.1:c.2041G>T	NP_001340973.1:p.Asp681Tyr
NM_015910.6:c.2113G>T	NP_056994.3:p.Asp705Tyr
NR_122106.2:n.1756G>T
NR_148704.1:n.2889G>T
NR_148705.1:n.2538G>T
XM_005264348.4:c.2079-595G>T	XP_005264405.1:n.2079-595G>T
XM_011532881.3:c.2007-595G>T	XP_011531183.1:n.2007-595G>T
XR_001738759.2:n.2438-595G>T
XR_001738760.2:n.2570G>T
XR_002959303.1:n.2809G>T
XR_244934.3:n.2571G>T
NM_015910.7:c.2113G>T MANE Select	NP_056994.3:p.Asp705Tyr
NM_001354044.2:c.2041G>T	NP_001340973.1:p.Asp681Tyr
NR_148704.2:n.2567G>T
NR_148705.2:n.2216G>T