Canonical Allele Identifier: CA348781

Gene: WDPCP

Linked Data

• ClinVar Variation Id: 220870
• ClinVar RCV Id: RCV000249291 ; RCV000514094 ; RCV000709653 ; RCV001138529 ; RCV001080716
• dbSNP Id: rs61734468
• ExAC: 2:63401820 T / C
• gnomAD v2: 2-63401820-T-C
• gnomAD v3: 2-63174685-T-C
• gnomAD v4: 2-63174685-T-C
• MyVariant Identifiers: chr2:g.63401820T>C (hg19) ; chr2:g.63174685T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.63174685T>C , CM000664.2:g.63174685T>C	GRCh38
NC_000002.11:g.63401820T>C , CM000664.1:g.63401820T>C	GRCh37
NC_000002.10:g.63255324T>C	NCBI36
NG_028144.1:g.419048A>G
NG_028144.2:g.671141A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272321.12:c.2063A>G MANE Select	ENSP00000272321.7:p.Asn688Ser
ENST00000272321.11:c.2063A>G	ENSP00000272321.7:p.Asn688Ser
ENST00000398544.7:c.1586A>G	ENSP00000381552.3:p.Asn529Ser
ENST00000409120.5:c.1487A>G	ENSP00000386769.1:p.Asn496Ser
ENST00000409199.5:c.1487A>G	ENSP00000386592.1:p.Asn496Ser
ENST00000409354.6:c.1321A>G	ENSP00000386795.2:n.1321A>G
NM_001042692.2:c.1586A>G	NP_001036157.1:p.Asn529Ser
NM_015910.5:c.2063A>G	NP_056994.3:p.Asn688Ser
NR_122106.1:n.1706A>G
XM_005264348.2:c.2063A>G	XP_005264405.1:p.Asn688Ser
XM_011532881.1:c.1991A>G	XP_011531183.1:p.Asn664Ser
XM_011532882.1:c.1964A>G	XP_011531184.1:p.Asn655Ser
XM_011532883.1:c.2063A>G	XP_011531185.1:p.Asn688Ser
XR_244934.1:n.2306A>G
XR_244935.1:n.2207A>G
NM_001042692.3:c.1586A>G	NP_001036157.1:p.Asn529Ser
NM_001354044.1:c.1991A>G	NP_001340973.1:p.Asn664Ser
NM_015910.6:c.2063A>G	NP_056994.3:p.Asn688Ser
NR_122106.2:n.1706A>G
NR_148704.1:n.2839A>G
NR_148705.1:n.2488A>G
XM_005264348.4:c.2063A>G	XP_005264405.1:p.Asn688Ser
XM_011532881.3:c.1991A>G	XP_011531183.1:p.Asn664Ser
XR_001738759.2:n.2422A>G
XR_001738760.2:n.2520A>G
XR_002959303.1:n.2759A>G
XR_244934.3:n.2521A>G
NM_015910.7:c.2063A>G MANE Select	NP_056994.3:p.Asn688Ser
NM_001354044.2:c.1991A>G	NP_001340973.1:p.Asn664Ser
NR_148704.2:n.2517A>G
NR_148705.2:n.2166A>G