Canonical Allele Identifier: CA4716114

Gene: DDHD2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.38245792C>T , CM000670.2:g.38245792C>T	GRCh38
NC_000008.10:g.38103310C>T , CM000670.1:g.38103310C>T	GRCh37
NC_000008.9:g.38222467C>T	NCBI36
NG_033875.1:g.19302C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015214.3:c.899C>T MANE Select	NP_056029.2:p.Thr300Ile
ENST00000397166.7:c.899C>T MANE Select	ENSP00000380352.2:p.Thr300Ile
NM_001164232.1:c.899C>T	NP_001157704.1:p.Thr300Ile
NM_001164232.2:c.899C>T	NP_001157704.1:p.Thr300Ile
NM_001362911.1:c.899C>T	NP_001349840.1:p.Thr300Ile
NM_001362911.2:c.899C>T	NP_001349840.1:p.Thr300Ile
NM_001362912.1:c.899C>T	NP_001349841.1:p.Thr300Ile
NM_001362912.2:c.899C>T	NP_001349841.1:p.Thr300Ile
NM_001362913.1:c.809C>T	NP_001349842.1:p.Thr270Ile
NM_001362913.2:c.809C>T	NP_001349842.1:p.Thr270Ile
NM_001362914.1:c.899C>T	NP_001349843.1:p.Thr300Ile
NM_001362914.2:c.899C>T	NP_001349843.1:p.Thr300Ile
NM_015214.2:c.899C>T	NP_056029.2:p.Thr300Ile
NR_156416.1:n.1276C>T
NR_156416.2:n.1182C>T
NR_156417.1:n.1276C>T
NR_156417.2:n.1182C>T
ENST00000397166.6:c.899C>T	ENSP00000380352.2:p.Thr300Ile
ENST00000520272.6:c.899C>T	ENSP00000429932.2:p.Thr300Ile
ENST00000527415.5:c.*259C>T	ENSP00000432024.1:n.*259C>T
ENST00000528888.5:n.472C>T
ENST00000531344.1:n.209C>T
ENST00000532106.1:c.277C>T
XM_005273454.1:c.899C>T	XP_005273511.1:p.Thr300Ile
XM_005273455.2:c.899C>T	XP_005273512.1:p.Thr300Ile
XM_005273456.2:c.809C>T	XP_005273513.1:p.Thr270Ile
XM_011544455.1:c.899C>T	XP_011542757.1:p.Thr300Ile
XM_011544456.1:c.899C>T	XP_011542758.1:p.Thr300Ile
XM_011544456.2:c.899C>T	XP_011542758.1:p.Thr300Ile
XM_017013255.2:c.-177C>T	XP_016868744.1:n.-177C>T
XR_001745504.2:n.1182C>T
XR_001745506.2:n.1182C>T
XR_247123.1:n.1424C>T
XR_949383.1:n.1424C>T
XR_949384.1:n.1424C>T
XR_949385.1:n.1424C>T
XR_949386.1:n.1424C>T
XR_949387.1:n.1424C>T