Canonical Allele Identifier: CA370718486
Community Standard Title: NM_015214.3(DDHD2):c.815G>A (p.Trp272Ter)
Gene: DDHD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38242352G>A , CM000670.2:g.38242352G>A GRCh38
NC_000008.10:g.38099870G>A , CM000670.1:g.38099870G>A GRCh37
NC_000008.9:g.38219027G>A NCBI36
NG_033875.1:g.15862G>A

Transcript Alleles

HGVS Amino-acid Change
NM_015214.3:c.815G>A MANE Select NP_056029.2:p.Trp272Ter
ENST00000397166.7:c.815G>A MANE Select ENSP00000380352.2:p.Trp272Ter
NM_001164232.1:c.815G>A NP_001157704.1:p.Trp272Ter
NM_001164232.2:c.815G>A NP_001157704.1:p.Trp272Ter
NM_001362911.1:c.815G>A NP_001349840.1:p.Trp272Ter
NM_001362911.2:c.815G>A NP_001349840.1:p.Trp272Ter
NM_001362912.1:c.815G>A NP_001349841.1:p.Trp272Ter
NM_001362912.2:c.815G>A NP_001349841.1:p.Trp272Ter
NM_001362913.1:c.725G>A NP_001349842.1:p.Trp242Ter
NM_001362913.2:c.725G>A NP_001349842.1:p.Trp242Ter
NM_001362914.1:c.815G>A NP_001349843.1:p.Trp272Ter
NM_001362914.2:c.815G>A NP_001349843.1:p.Trp272Ter
NM_015214.2:c.815G>A NP_056029.2:p.Trp272Ter
NR_156416.1:n.1192G>A
NR_156416.2:n.1098G>A
NR_156417.1:n.1192G>A
NR_156417.2:n.1098G>A
ENST00000397166.6:c.815G>A ENSP00000380352.2:p.Trp272Ter
ENST00000520272.6:c.815G>A ENSP00000429932.2:p.Trp272Ter
ENST00000527415.5:c.*175G>A ENSP00000432024.1:n.*175G>A
ENST00000528888.5:n.388G>A
ENST00000531344.1:n.125G>A
ENST00000532106.1:c.193G>A
XM_005273454.1:c.815G>A XP_005273511.1:p.Trp272Ter
XM_005273455.2:c.815G>A XP_005273512.1:p.Trp272Ter
XM_005273456.2:c.725G>A XP_005273513.1:p.Trp242Ter
XM_011544455.1:c.815G>A XP_011542757.1:p.Trp272Ter
XM_011544456.1:c.815G>A XP_011542758.1:p.Trp272Ter
XM_011544456.2:c.815G>A XP_011542758.1:p.Trp272Ter
XM_017013255.2:c.-261G>A XP_016868744.1:n.-261G>A
XR_001745504.2:n.1098G>A
XR_001745506.2:n.1098G>A
XR_247123.1:n.1340G>A
XR_949383.1:n.1340G>A
XR_949384.1:n.1340G>A
XR_949385.1:n.1340G>A
XR_949386.1:n.1340G>A
XR_949387.1:n.1340G>A