Canonical Allele Identifier: CA460374172
Community Standard Title: NM_015214.3(DDHD2):c.612C>T (p.Asp204=)
Gene: DDHD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38238199C>T , CM000670.2:g.38238199C>T GRCh38
NC_000008.10:g.38095717C>T , CM000670.1:g.38095717C>T GRCh37
NC_000008.9:g.38214874C>T NCBI36
NG_033875.1:g.11709C>T

Transcript Alleles

HGVS Amino-acid Change
NM_015214.3:c.612C>T MANE Select NP_056029.2:p.Asp204=
ENST00000397166.7:c.612C>T MANE Select ENSP00000380352.2:p.Asp204=
NM_001164232.1:c.612C>T NP_001157704.1:p.Asp204=
NM_001164232.2:c.612C>T NP_001157704.1:p.Asp204=
NM_001164234.1:c.612C>T NP_001157706.1:p.Asp204=
NM_001164234.2:c.612C>T NP_001157706.1:p.Asp204=
NM_001362911.1:c.612C>T NP_001349840.1:p.Asp204=
NM_001362911.2:c.612C>T NP_001349840.1:p.Asp204=
NM_001362912.1:c.612C>T NP_001349841.1:p.Asp204=
NM_001362912.2:c.612C>T NP_001349841.1:p.Asp204=
NM_001362913.1:c.612C>T NP_001349842.1:p.Asp204=
NM_001362913.2:c.612C>T NP_001349842.1:p.Asp204=
NM_001362914.1:c.612C>T NP_001349843.1:p.Asp204=
NM_001362914.2:c.612C>T NP_001349843.1:p.Asp204=
NM_015214.2:c.612C>T NP_056029.2:p.Asp204=
NR_156416.1:n.989C>T
NR_156416.2:n.895C>T
NR_156417.1:n.989C>T
NR_156417.2:n.895C>T
ENST00000397166.6:c.612C>T ENSP00000380352.2:p.Asp204=
ENST00000519857.5:n.809C>T
ENST00000520272.6:c.612C>T ENSP00000429932.2:p.Asp204=
ENST00000526237.5:c.*169C>T ENSP00000436994.1:n.*169C>T
ENST00000527415.5:c.411+572C>T ENSP00000432024.1:n.411+572C>T
ENST00000532222.5:c.612C>T ENSP00000433578.1:p.Asp204=
XM_005273454.1:c.612C>T XP_005273511.1:p.Asp204=
XM_005273455.2:c.612C>T XP_005273512.1:p.Asp204=
XM_005273456.2:c.612C>T XP_005273513.1:p.Asp204=
XM_011544455.1:c.612C>T XP_011542757.1:p.Asp204=
XM_011544456.1:c.612C>T XP_011542758.1:p.Asp204=
XM_011544456.2:c.612C>T XP_011542758.1:p.Asp204=
XM_017013255.2:c.-374C>T XP_016868744.1:n.-374C>T
XR_001745504.2:n.895C>T
XR_001745506.2:n.895C>T
XR_247123.1:n.1137C>T
XR_949383.1:n.1137C>T
XR_949384.1:n.1137C>T
XR_949385.1:n.1137C>T
XR_949386.1:n.1137C>T
XR_949387.1:n.1137C>T