Canonical Allele Identifier: CA426420720
Gene: WDPCP HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.63631571T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.63404436T>C , CM000664.2:g.63404436T>C GRCh38
NC_000002.11:g.63631571T>C , CM000664.1:g.63631571T>C GRCh37
NC_000002.10:g.63485075T>C NCBI36
NG_028144.1:g.189297A>G
NG_028144.2:g.441390A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000272321.12:c.1047A>G MANE Select ENSP00000272321.7:p.Glu349=
ENST00000272321.11:c.1047A>G ENSP00000272321.7:p.Glu349=
ENST00000398544.7:c.570A>G ENSP00000381552.3:p.Glu190=
ENST00000409120.5:c.471A>G ENSP00000386769.1:p.Glu157=
ENST00000409199.5:c.471A>G ENSP00000386592.1:p.Glu157=
ENST00000409354.6:c.408A>G ENSP00000386795.2:p.Glu136=
ENST00000409562.7:c.1047A>G ENSP00000387222.3:p.Glu349=
ENST00000409835.5:n.1294A>G
ENST00000417238.5:c.*1158A>G ENSP00000411429.1:n.*1158A>G
ENST00000493315.1:n.749A>G
NM_001042692.2:c.570A>G NP_001036157.1:p.Glu190=
NM_015910.5:c.1047A>G NP_056994.3:p.Glu349=
NR_122106.1:n.694A>G
XM_005264348.2:c.1047A>G XP_005264405.1:p.Glu349=
XM_011532881.1:c.975A>G XP_011531183.1:p.Glu325=
XM_011532882.1:c.948A>G XP_011531184.1:p.Glu316=
XM_011532883.1:c.1047A>G XP_011531185.1:p.Glu349=
XM_011532884.1:c.1047A>G XP_011531186.1:p.Glu349=
XM_011532885.1:c.1047A>G XP_011531187.1:p.Glu349=
XM_011532886.1:c.1047A>G XP_011531188.1:p.Glu349=
XM_011532887.1:c.1047A>G XP_011531189.1:p.Glu349=
XM_011532888.1:c.1047A>G XP_011531190.1:p.Glu349=
XM_011532889.1:c.1047A>G XP_011531191.1:p.Glu349=
XM_011532890.1:c.1047A>G XP_011531192.1:p.Glu349=
XM_011532891.1:c.975A>G XP_011531193.1:p.Glu325=
XR_244934.1:n.1294A>G
XR_244935.1:n.1294A>G
XR_939686.1:n.1294A>G
NM_001042692.3:c.570A>G NP_001036157.1:p.Glu190=
NM_001354044.1:c.975A>G NP_001340973.1:p.Glu325=
NM_001354045.1:c.1047A>G NP_001340974.1:p.Glu349=
NM_015910.6:c.1047A>G NP_056994.3:p.Glu349=
NR_122106.2:n.694A>G
NR_148704.1:n.1827A>G
NR_148705.1:n.1575A>G
XM_005264348.4:c.1047A>G XP_005264405.1:p.Glu349=
XM_011532881.3:c.975A>G XP_011531183.1:p.Glu325=
XM_011532884.3:c.1047A>G XP_011531186.1:p.Glu349=
XM_011532887.3:c.1047A>G XP_011531189.1:p.Glu349=
XM_011532890.3:c.1047A>G XP_011531192.1:p.Glu349=
XM_011532891.2:c.975A>G XP_011531193.1:p.Glu325=
XM_017004253.2:c.1047A>G XP_016859742.1:p.Glu349=
XM_017004254.2:c.1047A>G XP_016859743.1:p.Glu349=
XR_001738759.2:n.1509A>G
XR_001738760.2:n.1509A>G
XR_002959303.1:n.1509A>G
XR_244934.3:n.1509A>G
NM_015910.7:c.1047A>G MANE Select NP_056994.3:p.Glu349=
NM_001354044.2:c.975A>G NP_001340973.1:p.Glu325=
NM_001354045.2:c.1047A>G NP_001340974.1:p.Glu349=
NR_148704.2:n.1505A>G
NR_148705.2:n.1253A>G