Canonical Allele Identifier: CA347065368

Gene: WDPCP

Linked Data

• dbSNP Id: rs1378603364
• gnomAD v2: 2-63631624-T-C
• gnomAD v4: 2-63404489-T-C
• MyVariant Identifiers: chr2:g.63631624T>C (hg19) ; chr2:g.63404489T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.63404489T>C , CM000664.2:g.63404489T>C	GRCh38
NC_000002.11:g.63631624T>C , CM000664.1:g.63631624T>C	GRCh37
NC_000002.10:g.63485128T>C	NCBI36
NG_028144.1:g.189244A>G
NG_028144.2:g.441337A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272321.12:c.994A>G MANE Select	ENSP00000272321.7:p.Thr332Ala
ENST00000272321.11:c.994A>G	ENSP00000272321.7:p.Thr332Ala
ENST00000398544.7:c.517A>G	ENSP00000381552.3:p.Thr173Ala
ENST00000409120.5:c.418A>G	ENSP00000386769.1:p.Thr140Ala
ENST00000409199.5:c.418A>G	ENSP00000386592.1:p.Thr140Ala
ENST00000409354.6:c.355A>G	ENSP00000386795.2:p.Thr119Ala
ENST00000409562.7:c.994A>G	ENSP00000387222.3:p.Thr332Ala
ENST00000409835.5:n.1241A>G
ENST00000417238.5:c.*1105A>G	ENSP00000411429.1:n.*1105A>G
ENST00000493315.1:n.696A>G
NM_001042692.2:c.517A>G	NP_001036157.1:p.Thr173Ala
NM_015910.5:c.994A>G	NP_056994.3:p.Thr332Ala
NR_122106.1:n.641A>G
XM_005264348.2:c.994A>G	XP_005264405.1:p.Thr332Ala
XM_011532881.1:c.922A>G	XP_011531183.1:p.Thr308Ala
XM_011532882.1:c.895A>G	XP_011531184.1:p.Thr299Ala
XM_011532883.1:c.994A>G	XP_011531185.1:p.Thr332Ala
XM_011532884.1:c.994A>G	XP_011531186.1:p.Thr332Ala
XM_011532885.1:c.994A>G	XP_011531187.1:p.Thr332Ala
XM_011532886.1:c.994A>G	XP_011531188.1:p.Thr332Ala
XM_011532887.1:c.994A>G	XP_011531189.1:p.Thr332Ala
XM_011532888.1:c.994A>G	XP_011531190.1:p.Thr332Ala
XM_011532889.1:c.994A>G	XP_011531191.1:p.Thr332Ala
XM_011532890.1:c.994A>G	XP_011531192.1:p.Thr332Ala
XM_011532891.1:c.922A>G	XP_011531193.1:p.Thr308Ala
XR_244934.1:n.1241A>G
XR_244935.1:n.1241A>G
XR_939686.1:n.1241A>G
NM_001042692.3:c.517A>G	NP_001036157.1:p.Thr173Ala
NM_001354044.1:c.922A>G	NP_001340973.1:p.Thr308Ala
NM_001354045.1:c.994A>G	NP_001340974.1:p.Thr332Ala
NM_015910.6:c.994A>G	NP_056994.3:p.Thr332Ala
NR_122106.2:n.641A>G
NR_148704.1:n.1774A>G
NR_148705.1:n.1522A>G
XM_005264348.4:c.994A>G	XP_005264405.1:p.Thr332Ala
XM_011532881.3:c.922A>G	XP_011531183.1:p.Thr308Ala
XM_011532884.3:c.994A>G	XP_011531186.1:p.Thr332Ala
XM_011532887.3:c.994A>G	XP_011531189.1:p.Thr332Ala
XM_011532890.3:c.994A>G	XP_011531192.1:p.Thr332Ala
XM_011532891.2:c.922A>G	XP_011531193.1:p.Thr308Ala
XM_017004253.2:c.994A>G	XP_016859742.1:p.Thr332Ala
XM_017004254.2:c.994A>G	XP_016859743.1:p.Thr332Ala
XR_001738759.2:n.1456A>G
XR_001738760.2:n.1456A>G
XR_002959303.1:n.1456A>G
XR_244934.3:n.1456A>G
NM_015910.7:c.994A>G MANE Select	NP_056994.3:p.Thr332Ala
NM_001354044.2:c.922A>G	NP_001340973.1:p.Thr308Ala
NM_001354045.2:c.994A>G	NP_001340974.1:p.Thr332Ala
NR_148704.2:n.1452A>G
NR_148705.2:n.1200A>G