Canonical Allele Identifier: CA1681968

Gene: WDPCP

Linked Data

• ClinVar Variation Id: 336758
• ClinVar RCV Id: RCV000367006 ; RCV003522959
• dbSNP Id: rs746225322
• ExAC: 2:63380070 C / G
• gnomAD v2: 2-63380070-C-G
• gnomAD v3: 2-63152935-C-G
• gnomAD v4: 2-63152935-C-G
• MyVariant Identifiers: chr2:g.63380070C>G (hg19) ; chr2:g.63152935C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.63152935C>G , CM000664.2:g.63152935C>G	GRCh38
NC_000002.11:g.63380070C>G , CM000664.1:g.63380070C>G	GRCh37
NC_000002.10:g.63233574C>G	NCBI36
NG_028144.1:g.440798G>C
NG_028144.2:g.692891G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272321.12:c.2169G>C MANE Select	ENSP00000272321.7:p.Leu723=
ENST00000272321.11:c.2169G>C	ENSP00000272321.7:p.Leu723=
ENST00000398544.7:c.1692G>C	ENSP00000381552.3:p.Leu564=
ENST00000409120.5:c.1593G>C	ENSP00000386769.1:p.Leu531=
ENST00000409199.5:c.1593G>C	ENSP00000386592.1:p.Leu531=
ENST00000409354.6:c.1427G>C	ENSP00000386795.2:n.1427G>C
ENST00000487280.1:n.180G>C
NM_001042692.2:c.1692G>C	NP_001036157.1:p.Leu564=
NM_015910.5:c.2169G>C	NP_056994.3:p.Leu723=
NR_122106.1:n.1812G>C
XM_005264348.2:c.2089G>C	XP_005264405.1:p.Glu697Gln
XM_011532881.1:c.2017G>C	XP_011531183.1:p.Glu673Gln
XM_011532882.1:c.1990G>C	XP_011531184.1:p.Glu664Gln
XM_011532883.1:c.2169G>C	XP_011531185.1:p.Leu723=
XR_244934.1:n.2412G>C
XR_244935.1:n.2313G>C
NM_001042692.3:c.1692G>C	NP_001036157.1:p.Leu564=
NM_001354044.1:c.2097G>C	NP_001340973.1:p.Leu699=
NM_015910.6:c.2169G>C	NP_056994.3:p.Leu723=
NR_122106.2:n.1812G>C
NR_148704.1:n.2945G>C
NR_148705.1:n.2594G>C
XM_005264348.4:c.2089G>C	XP_005264405.1:p.Glu697Gln
XM_011532881.3:c.2017G>C	XP_011531183.1:p.Glu673Gln
XR_001738759.2:n.2448G>C
XR_001738760.2:n.2626G>C
XR_002959303.1:n.2865G>C
XR_244934.3:n.2627G>C
NM_015910.7:c.2169G>C MANE Select	NP_056994.3:p.Leu723=
NM_001354044.2:c.2097G>C	NP_001340973.1:p.Leu699=
NR_148704.2:n.2623G>C
NR_148705.2:n.2272G>C