Canonical Allele Identifier: CA4716188

Gene: DDHD2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.38247837T>C , CM000670.2:g.38247837T>C	GRCh38
NC_000008.10:g.38105355T>C , CM000670.1:g.38105355T>C	GRCh37
NC_000008.9:g.38224512T>C	NCBI36
NG_033875.1:g.21347T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_015214.3:c.1248+2T>C MANE Select	NP_056029.2:n.1248+2T>C
ENST00000397166.7:c.1248+2T>C MANE Select	ENSP00000380352.2:n.1248+2T>C
NM_001164232.1:c.1248+2T>C	NP_001157704.1:n.1248+2T>C
NM_001164232.2:c.1248+2T>C	NP_001157704.1:n.1248+2T>C
NM_001362911.1:c.1248+2T>C	NP_001349840.1:n.1248+2T>C
NM_001362911.2:c.1248+2T>C	NP_001349840.1:n.1248+2T>C
NM_001362912.1:c.1248+2T>C	NP_001349841.1:n.1248+2T>C
NM_001362912.2:c.1248+2T>C	NP_001349841.1:n.1248+2T>C
NM_001362913.1:c.1158+2T>C	NP_001349842.1:n.1158+2T>C
NM_001362913.2:c.1158+2T>C	NP_001349842.1:n.1158+2T>C
NM_001362914.1:c.1248+2T>C	NP_001349843.1:n.1248+2T>C
NM_001362914.2:c.1248+2T>C	NP_001349843.1:n.1248+2T>C
NM_015214.2:c.1248+2T>C	NP_056029.2:n.1248+2T>C
NR_156416.1:n.1557+2T>C
NR_156416.2:n.1463+2T>C
NR_156417.1:n.1557+2T>C
NR_156417.2:n.1463+2T>C
ENST00000397166.6:c.1248+2T>C	ENSP00000380352.2:n.1248+2T>C
ENST00000517385.5:c.105+2T>C	ENSP00000429017.1:n.105+2T>C
ENST00000520272.6:c.1248+2T>C	ENSP00000429932.2:n.1248+2T>C
ENST00000528504.5:n.240+2T>C
ENST00000528888.5:n.821+2T>C
ENST00000532106.1:c.503+1537T>C
XM_005273454.1:c.1248+2T>C	XP_005273511.1:n.1248+2T>C
XM_005273455.2:c.1248+2T>C	XP_005273512.1:n.1248+2T>C
XM_005273456.2:c.1158+2T>C	XP_005273513.1:n.1158+2T>C
XM_005273457.2:c.105+2T>C	XP_005273514.1:n.105+2T>C
XM_011544455.1:c.1248+2T>C	XP_011542757.1:n.1248+2T>C
XM_011544456.1:c.1248+2T>C	XP_011542758.1:n.1248+2T>C
XM_011544456.2:c.1248+2T>C	XP_011542758.1:n.1248+2T>C
XM_017013255.2:c.105+2T>C	XP_016868744.1:n.105+2T>C
XR_001745504.2:n.1531+2T>C
XR_001745506.2:n.1463+2T>C
XR_247123.1:n.1705+2T>C
XR_949383.1:n.1773+2T>C
XR_949384.1:n.1773+2T>C
XR_949385.1:n.1773+2T>C
XR_949386.1:n.1773+2T>C
XR_949387.1:n.1773+2T>C