Canonical Allele Identifier: CA10614256

Gene: WDPCP

Linked Data

• ClinVar Variation Id: 336753
• ClinVar RCV Id: RCV000397149
• dbSNP Id: rs369149310
• gnomAD v2: 2-63348818-T-C
• gnomAD v3: 2-63121683-T-C
• gnomAD v4: 2-63121683-T-C
• MyVariant Identifiers: chr2:g.63348818T>C (hg19) ; chr2:g.63121683T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.63121683T>C , CM000664.2:g.63121683T>C	GRCh38
NC_000002.11:g.63348818T>C , CM000664.1:g.63348818T>C	GRCh37
NC_000002.10:g.63202322T>C	NCBI36
NG_028144.1:g.472050A>G
NG_028144.2:g.724143A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272321.12:c.*323A>G MANE Select	ENSP00000272321.7:n.*323A>G
ENST00000272321.11:c.*323A>G	ENSP00000272321.7:n.*323A>G
ENST00000409199.5:c.*323A>G	ENSP00000386592.1:n.*323A>G
ENST00000409354.6:c.1822A>G	ENSP00000386795.2:n.1822A>G
NM_001042692.2:c.*323A>G	NP_001036157.1:n.*323A>G
NM_015910.5:c.*323A>G	NP_056994.3:n.*323A>G
NR_122106.1:n.2207A>G
XM_005264348.2:c.*138A>G	XP_005264405.1:n.*138A>G
XM_011532881.1:c.*138A>G	XP_011531183.1:n.*138A>G
XM_011532882.1:c.*138A>G	XP_011531184.1:n.*138A>G
NM_001042692.3:c.*323A>G	NP_001036157.1:n.*323A>G
NM_001354044.1:c.*323A>G	NP_001340973.1:n.*323A>G
NM_015910.6:c.*323A>G	NP_056994.3:n.*323A>G
NR_122106.2:n.2207A>G
NR_148704.1:n.3340A>G
NR_148705.1:n.2989A>G
XM_005264348.4:c.*138A>G	XP_005264405.1:n.*138A>G
XM_011532881.3:c.*138A>G	XP_011531183.1:n.*138A>G
XR_244934.3:n.3022A>G
NM_015910.7:c.*323A>G MANE Select	NP_056994.3:n.*323A>G
NM_001354044.2:c.*323A>G	NP_001340973.1:n.*323A>G
NR_148704.2:n.3018A>G
NR_148705.2:n.2667A>G