Canonical Allele Identifier: CA175070411
Community Standard Title: NM_015214.3(DDHD2):c.1058-17T>C
Gene: DDHD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38246216T>C , CM000670.2:g.38246216T>C GRCh38
NC_000008.10:g.38103734T>C , CM000670.1:g.38103734T>C GRCh37
NC_000008.9:g.38222891T>C NCBI36
NG_033875.1:g.19726T>C

Transcript Alleles

HGVS Amino-acid Change
NM_015214.3:c.1058-17T>C MANE Select NP_056029.2:n.1058-17T>C
ENST00000397166.7:c.1058-17T>C MANE Select ENSP00000380352.2:n.1058-17T>C
NM_001164232.1:c.1058-17T>C NP_001157704.1:n.1058-17T>C
NM_001164232.2:c.1058-17T>C NP_001157704.1:n.1058-17T>C
NM_001362911.1:c.1058-17T>C NP_001349840.1:n.1058-17T>C
NM_001362911.2:c.1058-17T>C NP_001349840.1:n.1058-17T>C
NM_001362912.1:c.1058-17T>C NP_001349841.1:n.1058-17T>C
NM_001362912.2:c.1058-17T>C NP_001349841.1:n.1058-17T>C
NM_001362913.1:c.968-17T>C NP_001349842.1:n.968-17T>C
NM_001362913.2:c.968-17T>C NP_001349842.1:n.968-17T>C
NM_001362914.1:c.1058-17T>C NP_001349843.1:n.1058-17T>C
NM_001362914.2:c.1058-17T>C NP_001349843.1:n.1058-17T>C
NM_015214.2:c.1058-17T>C NP_056029.2:n.1058-17T>C
NR_156416.1:n.1434+266T>C
NR_156416.2:n.1340+266T>C
NR_156417.1:n.1434+266T>C
NR_156417.2:n.1340+266T>C
ENST00000397166.6:c.1058-17T>C ENSP00000380352.2:n.1058-17T>C
ENST00000520272.6:c.1058-17T>C ENSP00000429932.2:n.1058-17T>C
ENST00000527415.5:c.*418-17T>C ENSP00000432024.1:n.*418-17T>C
ENST00000528504.5:n.33T>C
ENST00000528888.5:n.631-17T>C
ENST00000532106.1:c.436-17T>C
XM_005273454.1:c.1058-17T>C XP_005273511.1:n.1058-17T>C
XM_005273455.2:c.1058-17T>C XP_005273512.1:n.1058-17T>C
XM_005273456.2:c.968-17T>C XP_005273513.1:n.968-17T>C
XM_005273457.2:c.-19+266T>C XP_005273514.1:n.-19+266T>C
XM_011544455.1:c.1058-17T>C XP_011542757.1:n.1058-17T>C
XM_011544456.1:c.1058-17T>C XP_011542758.1:n.1058-17T>C
XM_011544456.2:c.1058-17T>C XP_011542758.1:n.1058-17T>C
XM_017013255.2:c.-19+266T>C XP_016868744.1:n.-19+266T>C
XR_001745504.2:n.1341-17T>C
XR_001745506.2:n.1340+266T>C
XR_247123.1:n.1582+266T>C
XR_949383.1:n.1583-17T>C
XR_949384.1:n.1583-17T>C
XR_949385.1:n.1583-17T>C
XR_949386.1:n.1583-17T>C
XR_949387.1:n.1583-17T>C