Canonical Allele Identifier: CA347065333

Gene: WDPCP

Linked Data

• ClinVar Variation Id: 981526
• ClinVar RCV Id: RCV001261001
• dbSNP Id: rs1694406253
• gnomAD v4: 2-63404472-C-G
• MyVariant Identifiers: chr2:g.63631607C>G (hg19) ; chr2:g.63404472C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.63404472C>G , CM000664.2:g.63404472C>G	GRCh38
NC_000002.11:g.63631607C>G , CM000664.1:g.63631607C>G	GRCh37
NC_000002.10:g.63485111C>G	NCBI36
NG_028144.1:g.189261G>C
NG_028144.2:g.441354G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272321.12:c.1011G>C MANE Select	ENSP00000272321.7:p.Lys337Asn
ENST00000272321.11:c.1011G>C	ENSP00000272321.7:p.Lys337Asn
ENST00000398544.7:c.534G>C	ENSP00000381552.3:p.Lys178Asn
ENST00000409120.5:c.435G>C	ENSP00000386769.1:p.Lys145Asn
ENST00000409199.5:c.435G>C	ENSP00000386592.1:p.Lys145Asn
ENST00000409354.6:c.372G>C	ENSP00000386795.2:p.Lys124Asn
ENST00000409562.7:c.1011G>C	ENSP00000387222.3:p.Lys337Asn
ENST00000409835.5:n.1258G>C
ENST00000417238.5:c.*1122G>C	ENSP00000411429.1:n.*1122G>C
ENST00000493315.1:n.713G>C
NM_001042692.2:c.534G>C	NP_001036157.1:p.Lys178Asn
NM_015910.5:c.1011G>C	NP_056994.3:p.Lys337Asn
NR_122106.1:n.658G>C
XM_005264348.2:c.1011G>C	XP_005264405.1:p.Lys337Asn
XM_011532881.1:c.939G>C	XP_011531183.1:p.Lys313Asn
XM_011532882.1:c.912G>C	XP_011531184.1:p.Lys304Asn
XM_011532883.1:c.1011G>C	XP_011531185.1:p.Lys337Asn
XM_011532884.1:c.1011G>C	XP_011531186.1:p.Lys337Asn
XM_011532885.1:c.1011G>C	XP_011531187.1:p.Lys337Asn
XM_011532886.1:c.1011G>C	XP_011531188.1:p.Lys337Asn
XM_011532887.1:c.1011G>C	XP_011531189.1:p.Lys337Asn
XM_011532888.1:c.1011G>C	XP_011531190.1:p.Lys337Asn
XM_011532889.1:c.1011G>C	XP_011531191.1:p.Lys337Asn
XM_011532890.1:c.1011G>C	XP_011531192.1:p.Lys337Asn
XM_011532891.1:c.939G>C	XP_011531193.1:p.Lys313Asn
XR_244934.1:n.1258G>C
XR_244935.1:n.1258G>C
XR_939686.1:n.1258G>C
NM_001042692.3:c.534G>C	NP_001036157.1:p.Lys178Asn
NM_001354044.1:c.939G>C	NP_001340973.1:p.Lys313Asn
NM_001354045.1:c.1011G>C	NP_001340974.1:p.Lys337Asn
NM_015910.6:c.1011G>C	NP_056994.3:p.Lys337Asn
NR_122106.2:n.658G>C
NR_148704.1:n.1791G>C
NR_148705.1:n.1539G>C
XM_005264348.4:c.1011G>C	XP_005264405.1:p.Lys337Asn
XM_011532881.3:c.939G>C	XP_011531183.1:p.Lys313Asn
XM_011532884.3:c.1011G>C	XP_011531186.1:p.Lys337Asn
XM_011532887.3:c.1011G>C	XP_011531189.1:p.Lys337Asn
XM_011532890.3:c.1011G>C	XP_011531192.1:p.Lys337Asn
XM_011532891.2:c.939G>C	XP_011531193.1:p.Lys313Asn
XM_017004253.2:c.1011G>C	XP_016859742.1:p.Lys337Asn
XM_017004254.2:c.1011G>C	XP_016859743.1:p.Lys337Asn
XR_001738759.2:n.1473G>C
XR_001738760.2:n.1473G>C
XR_002959303.1:n.1473G>C
XR_244934.3:n.1473G>C
NM_015910.7:c.1011G>C MANE Select	NP_056994.3:p.Lys337Asn
NM_001354044.2:c.939G>C	NP_001340973.1:p.Lys313Asn
NM_001354045.2:c.1011G>C	NP_001340974.1:p.Lys337Asn
NR_148704.2:n.1469G>C
NR_148705.2:n.1217G>C