Canonical Allele Identifier: CA370717584

Gene: DDHD2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.38240290T>C , CM000670.2:g.38240290T>C	GRCh38
NC_000008.10:g.38097808T>C , CM000670.1:g.38097808T>C	GRCh37
NC_000008.9:g.38216965T>C	NCBI36
NG_033875.1:g.13800T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397166.7:c.638T>C MANE Select	ENSP00000380352.2:p.Ile213Thr
ENST00000397166.6:c.638T>C	ENSP00000380352.2:p.Ile213Thr
ENST00000520272.6:c.638T>C	ENSP00000429932.2:p.Ile213Thr
ENST00000526237.5:c.*195T>C	ENSP00000436994.1:n.*195T>C
ENST00000527415.5:c.427T>C	ENSP00000432024.1:p.Ter143Gln
ENST00000532106.1:c.16T>C
ENST00000532222.5:c.623-1960T>C	ENSP00000433578.1:n.623-1960T>C
NM_001164232.1:c.638T>C	NP_001157704.1:p.Ile213Thr
NM_015214.2:c.638T>C	NP_056029.2:p.Ile213Thr
XM_005273454.1:c.638T>C	XP_005273511.1:p.Ile213Thr
XM_005273455.2:c.638T>C	XP_005273512.1:p.Ile213Thr
XM_005273456.2:c.623-1960T>C	XP_005273513.1:n.623-1960T>C
XM_011544455.1:c.638T>C	XP_011542757.1:p.Ile213Thr
XM_011544456.1:c.638T>C	XP_011542758.1:p.Ile213Thr
XR_247123.1:n.1163T>C
XR_949383.1:n.1163T>C
XR_949384.1:n.1163T>C
XR_949385.1:n.1163T>C
XR_949386.1:n.1163T>C
XR_949387.1:n.1163T>C
NM_001362911.1:c.638T>C	NP_001349840.1:p.Ile213Thr
NM_001362912.1:c.638T>C	NP_001349841.1:p.Ile213Thr
NM_001362913.1:c.623-1960T>C	NP_001349842.1:n.623-1960T>C
NM_001362914.1:c.638T>C	NP_001349843.1:p.Ile213Thr
NR_156416.1:n.1015T>C
NR_156417.1:n.1015T>C
XM_011544456.2:c.638T>C	XP_011542758.1:p.Ile213Thr
XM_017013255.2:c.-363-1960T>C	XP_016868744.1:n.-363-1960T>C
XR_001745504.2:n.921T>C
XR_001745506.2:n.921T>C
NM_001362911.2:c.638T>C	NP_001349840.1:p.Ile213Thr
NM_001362912.2:c.638T>C	NP_001349841.1:p.Ile213Thr
NM_015214.3:c.638T>C MANE Select	NP_056029.2:p.Ile213Thr
NR_156417.2:n.921T>C
NM_001164232.2:c.638T>C	NP_001157704.1:p.Ile213Thr
NM_001362913.2:c.623-1960T>C	NP_001349842.1:n.623-1960T>C
NM_001362914.2:c.638T>C	NP_001349843.1:p.Ile213Thr
NR_156416.2:n.921T>C