Canonical Allele Identifier: CA49230096

Gene: WDPCP

Linked Data

• dbSNP Id: rs754750559
• gnomAD v3: 2-63369705-C-G
• gnomAD v4: 2-63369705-C-G
• MyVariant Identifiers: chr2:g.63596840C>G (hg19) ; chr2:g.63369705C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.63369705C>G , CM000664.2:g.63369705C>G	GRCh38
NC_000002.11:g.63596840C>G , CM000664.1:g.63596840C>G	GRCh37
NC_000002.10:g.63450344C>G	NCBI36
NG_028144.1:g.224028G>C
NG_028144.2:g.476121G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272321.12:c.1748+8681G>C MANE Select	ENSP00000272321.7:n.1748+8681G>C
ENST00000272321.11:c.1748+8681G>C	ENSP00000272321.7:n.1748+8681G>C
ENST00000398544.7:c.1271+8681G>C	ENSP00000381552.3:n.1271+8681G>C
ENST00000409120.5:c.1172+8681G>C	ENSP00000386769.1:n.1172+8681G>C
ENST00000409199.5:c.1172+8681G>C	ENSP00000386592.1:n.1172+8681G>C
ENST00000409354.6:c.1109+8681G>C	ENSP00000386795.2:n.1109+8681G>C
ENST00000409562.7:c.1748+8681G>C	ENSP00000387222.3:n.1748+8681G>C
ENST00000409835.5:n.1995+8681G>C
ENST00000417238.5:c.*1860-247G>C	ENSP00000411429.1:n.*1860-247G>C
NM_001042692.2:c.1271+8681G>C	NP_001036157.1:n.1271+8681G>C
NM_015910.5:c.1748+8681G>C	NP_056994.3:n.1748+8681G>C
NR_122106.1:n.1395+8681G>C
XM_005264348.2:c.1748+8681G>C	XP_005264405.1:n.1748+8681G>C
XM_011532881.1:c.1676+8681G>C	XP_011531183.1:n.1676+8681G>C
XM_011532882.1:c.1649+8681G>C	XP_011531184.1:n.1649+8681G>C
XM_011532883.1:c.1748+8681G>C	XP_011531185.1:n.1748+8681G>C
XM_011532884.1:c.1748+8681G>C	XP_011531186.1:n.1748+8681G>C
XM_011532885.1:c.1748+8681G>C	XP_011531187.1:n.1748+8681G>C
XM_011532886.1:c.1748+8681G>C	XP_011531188.1:n.1748+8681G>C
XM_011532887.1:c.1748+8681G>C	XP_011531189.1:n.1748+8681G>C
XM_011532889.1:c.*21+7508G>C	XP_011531191.1:n.*21+7508G>C
XM_011532890.1:c.1749-247G>C	XP_011531192.1:n.1749-247G>C
XM_011532891.1:c.1677-247G>C	XP_011531193.1:n.1677-247G>C
XR_244934.1:n.1995+8681G>C
XR_244935.1:n.1995+8681G>C
XR_939686.1:n.1995+8681G>C
NM_001042692.3:c.1271+8681G>C	NP_001036157.1:n.1271+8681G>C
NM_001354044.1:c.1676+8681G>C	NP_001340973.1:n.1676+8681G>C
NM_001354045.1:c.1748+8681G>C	NP_001340974.1:n.1748+8681G>C
NM_015910.6:c.1748+8681G>C	NP_056994.3:n.1748+8681G>C
NR_122106.2:n.1395+8681G>C
NR_148704.1:n.2528+8681G>C
NR_148705.1:n.2276+8681G>C
XM_005264348.4:c.1748+8681G>C	XP_005264405.1:n.1748+8681G>C
XM_011532881.3:c.1676+8681G>C	XP_011531183.1:n.1676+8681G>C
XM_011532884.3:c.1748+8681G>C	XP_011531186.1:n.1748+8681G>C
XM_011532887.3:c.1748+8681G>C	XP_011531189.1:n.1748+8681G>C
XM_011532890.3:c.1749-247G>C	XP_011531192.1:n.1749-247G>C
XM_011532891.2:c.1677-247G>C	XP_011531193.1:n.1677-247G>C
XM_017004253.2:c.1748+8681G>C	XP_016859742.1:n.1748+8681G>C
XM_017004254.2:c.1748+8681G>C	XP_016859743.1:n.1748+8681G>C
XR_001738759.2:n.2210+8681G>C
XR_001738760.2:n.2205+8681G>C
XR_002959303.1:n.2210+8681G>C
XR_244934.3:n.2210+8681G>C
NM_015910.7:c.1748+8681G>C MANE Select	NP_056994.3:n.1748+8681G>C
NM_001354044.2:c.1676+8681G>C	NP_001340973.1:n.1676+8681G>C
NM_001354045.2:c.1748+8681G>C	NP_001340974.1:n.1748+8681G>C
NR_148704.2:n.2206+8681G>C
NR_148705.2:n.1954+8681G>C