Canonical Allele Identifier: CA347065198

Gene: WDPCP

Linked Data

• dbSNP Id: rs1694399440
• gnomAD v4: 2-63404411-C-T
• MyVariant Identifiers: chr2:g.63631546C>T (hg19) ; chr2:g.63404411C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.63404411C>T , CM000664.2:g.63404411C>T	GRCh38
NC_000002.11:g.63631546C>T , CM000664.1:g.63631546C>T	GRCh37
NC_000002.10:g.63485050C>T	NCBI36
NG_028144.1:g.189322G>A
NG_028144.2:g.441415G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272321.12:c.1072G>A MANE Select	ENSP00000272321.7:p.Asp358Asn
ENST00000272321.11:c.1072G>A	ENSP00000272321.7:p.Asp358Asn
ENST00000398544.7:c.595G>A	ENSP00000381552.3:p.Asp199Asn
ENST00000409120.5:c.496G>A	ENSP00000386769.1:p.Asp166Asn
ENST00000409199.5:c.496G>A	ENSP00000386592.1:p.Asp166Asn
ENST00000409354.6:c.433G>A	ENSP00000386795.2:p.Asp145Asn
ENST00000409562.7:c.1072G>A	ENSP00000387222.3:p.Asp358Asn
ENST00000409835.5:n.1319G>A
ENST00000417238.5:c.*1183G>A	ENSP00000411429.1:n.*1183G>A
ENST00000493315.1:n.774G>A
NM_001042692.2:c.595G>A	NP_001036157.1:p.Asp199Asn
NM_015910.5:c.1072G>A	NP_056994.3:p.Asp358Asn
NR_122106.1:n.719G>A
XM_005264348.2:c.1072G>A	XP_005264405.1:p.Asp358Asn
XM_011532881.1:c.1000G>A	XP_011531183.1:p.Asp334Asn
XM_011532882.1:c.973G>A	XP_011531184.1:p.Asp325Asn
XM_011532883.1:c.1072G>A	XP_011531185.1:p.Asp358Asn
XM_011532884.1:c.1072G>A	XP_011531186.1:p.Asp358Asn
XM_011532885.1:c.1072G>A	XP_011531187.1:p.Asp358Asn
XM_011532886.1:c.1072G>A	XP_011531188.1:p.Asp358Asn
XM_011532887.1:c.1072G>A	XP_011531189.1:p.Asp358Asn
XM_011532888.1:c.1072G>A	XP_011531190.1:p.Asp358Asn
XM_011532889.1:c.1072G>A	XP_011531191.1:p.Asp358Asn
XM_011532890.1:c.1072G>A	XP_011531192.1:p.Asp358Asn
XM_011532891.1:c.1000G>A	XP_011531193.1:p.Asp334Asn
XR_244934.1:n.1319G>A
XR_244935.1:n.1319G>A
XR_939686.1:n.1319G>A
NM_001042692.3:c.595G>A	NP_001036157.1:p.Asp199Asn
NM_001354044.1:c.1000G>A	NP_001340973.1:p.Asp334Asn
NM_001354045.1:c.1072G>A	NP_001340974.1:p.Asp358Asn
NM_015910.6:c.1072G>A	NP_056994.3:p.Asp358Asn
NR_122106.2:n.719G>A
NR_148704.1:n.1852G>A
NR_148705.1:n.1600G>A
XM_005264348.4:c.1072G>A	XP_005264405.1:p.Asp358Asn
XM_011532881.3:c.1000G>A	XP_011531183.1:p.Asp334Asn
XM_011532884.3:c.1072G>A	XP_011531186.1:p.Asp358Asn
XM_011532887.3:c.1072G>A	XP_011531189.1:p.Asp358Asn
XM_011532890.3:c.1072G>A	XP_011531192.1:p.Asp358Asn
XM_011532891.2:c.1000G>A	XP_011531193.1:p.Asp334Asn
XM_017004253.2:c.1072G>A	XP_016859742.1:p.Asp358Asn
XM_017004254.2:c.1072G>A	XP_016859743.1:p.Asp358Asn
XR_001738759.2:n.1534G>A
XR_001738760.2:n.1534G>A
XR_002959303.1:n.1534G>A
XR_244934.3:n.1534G>A
NM_015910.7:c.1072G>A MANE Select	NP_056994.3:p.Asp358Asn
NM_001354044.2:c.1000G>A	NP_001340973.1:p.Asp334Asn
NM_001354045.2:c.1072G>A	NP_001340974.1:p.Asp358Asn
NR_148704.2:n.1530G>A
NR_148705.2:n.1278G>A