Canonical Allele Identifier: CA175111880
Community Standard Title: NM_015214.3(DDHD2):c.420C>A (p.Tyr140Ter)
Gene: DDHD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38237546C>A , CM000670.2:g.38237546C>A GRCh38
NC_000008.10:g.38095064C>A , CM000670.1:g.38095064C>A GRCh37
NC_000008.9:g.38214221C>A NCBI36
NG_033875.1:g.11056C>A

Transcript Alleles

HGVS Amino-acid Change
NM_015214.3:c.420C>A MANE Select NP_056029.2:p.Tyr140Ter
ENST00000397166.7:c.420C>A MANE Select ENSP00000380352.2:p.Tyr140Ter
NM_001164232.1:c.420C>A NP_001157704.1:p.Tyr140Ter
NM_001164232.2:c.420C>A NP_001157704.1:p.Tyr140Ter
NM_001164234.1:c.420C>A NP_001157706.1:p.Tyr140Ter
NM_001164234.2:c.420C>A NP_001157706.1:p.Tyr140Ter
NM_001362911.1:c.420C>A NP_001349840.1:p.Tyr140Ter
NM_001362911.2:c.420C>A NP_001349840.1:p.Tyr140Ter
NM_001362912.1:c.420C>A NP_001349841.1:p.Tyr140Ter
NM_001362912.2:c.420C>A NP_001349841.1:p.Tyr140Ter
NM_001362913.1:c.420C>A NP_001349842.1:p.Tyr140Ter
NM_001362913.2:c.420C>A NP_001349842.1:p.Tyr140Ter
NM_001362914.1:c.420C>A NP_001349843.1:p.Tyr140Ter
NM_001362914.2:c.420C>A NP_001349843.1:p.Tyr140Ter
NM_015214.2:c.420C>A NP_056029.2:p.Tyr140Ter
NR_156416.1:n.797C>A
NR_156416.2:n.703C>A
NR_156417.1:n.797C>A
NR_156417.2:n.703C>A
ENST00000397166.6:c.420C>A ENSP00000380352.2:p.Tyr140Ter
ENST00000519857.5:n.617C>A
ENST00000520272.6:c.420C>A ENSP00000429932.2:p.Tyr140Ter
ENST00000526237.5:c.229C>A ENSP00000436994.1:p.His77Asn
ENST00000526370.1:n.499C>A
ENST00000527415.5:c.330C>A ENSP00000432024.1:p.Tyr110Ter
ENST00000527834.5:c.420C>A ENSP00000432433.1:p.Tyr140Ter
ENST00000528358.5:c.414C>A ENSP00000433118.1:p.Tyr138Ter
ENST00000529642.1:c.132C>A ENSP00000436444.1:p.Tyr44Ter
ENST00000532222.5:c.420C>A ENSP00000433578.1:p.Tyr140Ter
XM_005273454.1:c.420C>A XP_005273511.1:p.Tyr140Ter
XM_005273455.2:c.420C>A XP_005273512.1:p.Tyr140Ter
XM_005273456.2:c.420C>A XP_005273513.1:p.Tyr140Ter
XM_011544455.1:c.420C>A XP_011542757.1:p.Tyr140Ter
XM_011544456.1:c.420C>A XP_011542758.1:p.Tyr140Ter
XM_011544456.2:c.420C>A XP_011542758.1:p.Tyr140Ter
XM_017013255.2:c.-566C>A XP_016868744.1:n.-566C>A
XR_001745504.2:n.703C>A
XR_001745506.2:n.703C>A
XR_247123.1:n.945C>A
XR_949383.1:n.945C>A
XR_949384.1:n.945C>A
XR_949385.1:n.945C>A
XR_949386.1:n.945C>A
XR_949387.1:n.945C>A