Canonical Allele Identifier: CA4716255
Community Standard Title: NM_015214.3(DDHD2):c.1382C>T (p.Ala461Val)
Gene: DDHD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38251949C>T , CM000670.2:g.38251949C>T GRCh38
NC_000008.10:g.38109467C>T , CM000670.1:g.38109467C>T GRCh37
NC_000008.9:g.38228624C>T NCBI36
NG_033875.1:g.25459C>T

Transcript Alleles

HGVS Amino-acid Change
NM_015214.3:c.1382C>T MANE Select NP_056029.2:p.Ala461Val
ENST00000397166.7:c.1382C>T MANE Select ENSP00000380352.2:p.Ala461Val
NM_001164232.1:c.1382C>T NP_001157704.1:p.Ala461Val
NM_001164232.2:c.1382C>T NP_001157704.1:p.Ala461Val
NM_001362911.1:c.1382C>T NP_001349840.1:p.Ala461Val
NM_001362911.2:c.1382C>T NP_001349840.1:p.Ala461Val
NM_001362912.1:c.1382C>T NP_001349841.1:p.Ala461Val
NM_001362912.2:c.1382C>T NP_001349841.1:p.Ala461Val
NM_001362913.1:c.1292C>T NP_001349842.1:p.Ala431Val
NM_001362913.2:c.1292C>T NP_001349842.1:p.Ala431Val
NM_001362914.1:c.1382C>T NP_001349843.1:p.Ala461Val
NM_001362914.2:c.1382C>T NP_001349843.1:p.Ala461Val
NM_015214.2:c.1382C>T NP_056029.2:p.Ala461Val
NR_156416.1:n.1691C>T
NR_156416.2:n.1597C>T
NR_156417.1:n.1691C>T
NR_156417.2:n.1597C>T
ENST00000397166.6:c.1382C>T ENSP00000380352.2:p.Ala461Val
ENST00000517385.5:c.239C>T ENSP00000429017.1:p.Ala80Val
ENST00000520176.5:n.2171C>T
ENST00000520272.6:c.1382C>T ENSP00000429932.2:p.Ala461Val
ENST00000528504.5:n.374C>T
ENST00000529845.5:c.-246C>T ENSP00000431638.1:n.-246C>T
ENST00000532106.1:c.541C>T
XM_005273454.1:c.1382C>T XP_005273511.1:p.Ala461Val
XM_005273455.2:c.1382C>T XP_005273512.1:p.Ala461Val
XM_005273456.2:c.1292C>T XP_005273513.1:p.Ala431Val
XM_005273457.2:c.239C>T XP_005273514.1:p.Ala80Val
XM_011544455.1:c.1382C>T XP_011542757.1:p.Ala461Val
XM_011544456.1:c.1382C>T XP_011542758.1:p.Ala461Val
XM_011544456.2:c.1382C>T XP_011542758.1:p.Ala461Val
XM_017013255.2:c.239C>T XP_016868744.1:p.Ala80Val
XR_001745504.2:n.1665C>T
XR_001745506.2:n.1597C>T
XR_247123.1:n.1839C>T
XR_949383.1:n.1907C>T
XR_949384.1:n.1907C>T
XR_949385.1:n.1907C>T
XR_949386.1:n.1907C>T
XR_949387.1:n.1907C>T