Canonical Allele Identifier: CA4715940
Gene: DDHD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38234508G>A , CM000670.2:g.38234508G>A GRCh38
NC_000008.10:g.38092026G>A , CM000670.1:g.38092026G>A GRCh37
NC_000008.9:g.38211183G>A NCBI36
NG_033875.1:g.8018G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000397166.7:c.335G>A MANE Select ENSP00000380352.2:p.Arg112Gln
ENST00000397166.6:c.335G>A ENSP00000380352.2:p.Arg112Gln
ENST00000519857.5:n.532G>A
ENST00000520272.6:c.335G>A ENSP00000429932.2:p.Arg112Gln
ENST00000526237.5:c.220+1294G>A ENSP00000436994.1:n.220+1294G>A
ENST00000526370.1:n.488G>A
ENST00000527415.5:c.245G>A ENSP00000432024.1:p.Arg82Gln
ENST00000527834.5:c.335G>A ENSP00000432433.1:p.Arg112Gln
ENST00000528358.5:c.329G>A ENSP00000433118.1:p.Arg110Gln
ENST00000529642.1:c.47G>A ENSP00000436444.1:p.Arg16Gln
ENST00000532222.5:c.335G>A ENSP00000433578.1:p.Arg112Gln
ENST00000533100.5:c.335G>A ENSP00000432678.1:p.Arg112Gln
NM_001164232.1:c.335G>A NP_001157704.1:p.Arg112Gln
NM_001164234.1:c.335G>A NP_001157706.1:p.Arg112Gln
NM_015214.2:c.335G>A NP_056029.2:p.Arg112Gln
XM_005273454.1:c.335G>A XP_005273511.1:p.Arg112Gln
XM_005273455.2:c.335G>A XP_005273512.1:p.Arg112Gln
XM_005273456.2:c.335G>A XP_005273513.1:p.Arg112Gln
XM_011544455.1:c.335G>A XP_011542757.1:p.Arg112Gln
XM_011544456.1:c.335G>A XP_011542758.1:p.Arg112Gln
XR_247123.1:n.860G>A
XR_949383.1:n.860G>A
XR_949384.1:n.860G>A
XR_949385.1:n.860G>A
XR_949386.1:n.860G>A
XR_949387.1:n.860G>A
NM_001362911.1:c.335G>A NP_001349840.1:p.Arg112Gln
NM_001362912.1:c.335G>A NP_001349841.1:p.Arg112Gln
NM_001362913.1:c.335G>A NP_001349842.1:p.Arg112Gln
NM_001362914.1:c.335G>A NP_001349843.1:p.Arg112Gln
NR_156416.1:n.712G>A
NR_156417.1:n.712G>A
XM_011544456.2:c.335G>A XP_011542758.1:p.Arg112Gln
XM_017013255.2:c.-651G>A XP_016868744.1:n.-651G>A
XR_001745504.2:n.618G>A
XR_001745506.2:n.618G>A
NM_001362911.2:c.335G>A NP_001349840.1:p.Arg112Gln
NM_001362912.2:c.335G>A NP_001349841.1:p.Arg112Gln
NM_015214.3:c.335G>A MANE Select NP_056029.2:p.Arg112Gln
NR_156417.2:n.618G>A
NM_001164232.2:c.335G>A NP_001157704.1:p.Arg112Gln
NM_001164234.2:c.335G>A NP_001157706.1:p.Arg112Gln
NM_001362913.2:c.335G>A NP_001349842.1:p.Arg112Gln
NM_001362914.2:c.335G>A NP_001349843.1:p.Arg112Gln
NR_156416.2:n.618G>A