Canonical Allele Identifier: CA1682044

Gene: WDPCP

Linked Data

• ClinVar Variation Id: 336761
• ClinVar RCV Id: RCV000354381 ; RCV001245531
• dbSNP Id: rs759281211
• ExAC: 2:63401938 T / C
• gnomAD v2: 2-63401938-T-C
• gnomAD v4: 2-63174803-T-C
• MyVariant Identifiers: chr2:g.63401938T>C (hg19) ; chr2:g.63174803T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.63174803T>C , CM000664.2:g.63174803T>C	GRCh38
NC_000002.11:g.63401938T>C , CM000664.1:g.63401938T>C	GRCh37
NC_000002.10:g.63255442T>C	NCBI36
NG_028144.1:g.418930A>G
NG_028144.2:g.671023A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272321.12:c.1945A>G MANE Select	ENSP00000272321.7:p.Met649Val
ENST00000272321.11:c.1945A>G	ENSP00000272321.7:p.Met649Val
ENST00000398544.7:c.1468A>G	ENSP00000381552.3:p.Met490Val
ENST00000409120.5:c.1369A>G	ENSP00000386769.1:p.Met457Val
ENST00000409199.5:c.1369A>G	ENSP00000386592.1:p.Met457Val
ENST00000409354.6:c.1203A>G	ENSP00000386795.2:p.Ile401Met
NM_001042692.2:c.1468A>G	NP_001036157.1:p.Met490Val
NM_015910.5:c.1945A>G	NP_056994.3:p.Met649Val
NR_122106.1:n.1588A>G
XM_005264348.2:c.1945A>G	XP_005264405.1:p.Met649Val
XM_011532881.1:c.1873A>G	XP_011531183.1:p.Met625Val
XM_011532882.1:c.1846A>G	XP_011531184.1:p.Met616Val
XM_011532883.1:c.1945A>G	XP_011531185.1:p.Met649Val
XR_244934.1:n.2188A>G
XR_244935.1:n.2089A>G
XR_939686.1:n.2426A>G
NM_001042692.3:c.1468A>G	NP_001036157.1:p.Met490Val
NM_001354044.1:c.1873A>G	NP_001340973.1:p.Met625Val
NM_015910.6:c.1945A>G	NP_056994.3:p.Met649Val
NR_122106.2:n.1588A>G
NR_148704.1:n.2721A>G
NR_148705.1:n.2370A>G
XM_005264348.4:c.1945A>G	XP_005264405.1:p.Met649Val
XM_011532881.3:c.1873A>G	XP_011531183.1:p.Met625Val
XR_001738759.2:n.2304A>G
XR_001738760.2:n.2402A>G
XR_002959303.1:n.2641A>G
XR_244934.3:n.2403A>G
NM_015910.7:c.1945A>G MANE Select	NP_056994.3:p.Met649Val
NM_001354044.2:c.1873A>G	NP_001340973.1:p.Met625Val
NR_148704.2:n.2399A>G
NR_148705.2:n.2048A>G