Canonical Allele Identifier: CA370712848

Gene: DDHD2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.38234564A>C , CM000670.2:g.38234564A>C	GRCh38
NC_000008.10:g.38092082A>C , CM000670.1:g.38092082A>C	GRCh37
NC_000008.9:g.38211239A>C	NCBI36
NG_033875.1:g.8074A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_015214.3:c.391A>C MANE Select	NP_056029.2:p.Ser131Arg
ENST00000397166.7:c.391A>C MANE Select	ENSP00000380352.2:p.Ser131Arg
NM_001164232.1:c.391A>C	NP_001157704.1:p.Ser131Arg
NM_001164232.2:c.391A>C	NP_001157704.1:p.Ser131Arg
NM_001164234.1:c.391A>C	NP_001157706.1:p.Ser131Arg
NM_001164234.2:c.391A>C	NP_001157706.1:p.Ser131Arg
NM_001362911.1:c.391A>C	NP_001349840.1:p.Ser131Arg
NM_001362911.2:c.391A>C	NP_001349840.1:p.Ser131Arg
NM_001362912.1:c.391A>C	NP_001349841.1:p.Ser131Arg
NM_001362912.2:c.391A>C	NP_001349841.1:p.Ser131Arg
NM_001362913.1:c.391A>C	NP_001349842.1:p.Ser131Arg
NM_001362913.2:c.391A>C	NP_001349842.1:p.Ser131Arg
NM_001362914.1:c.391A>C	NP_001349843.1:p.Ser131Arg
NM_001362914.2:c.391A>C	NP_001349843.1:p.Ser131Arg
NM_015214.2:c.391A>C	NP_056029.2:p.Ser131Arg
NR_156416.1:n.768A>C
NR_156416.2:n.674A>C
NR_156417.1:n.768A>C
NR_156417.2:n.674A>C
ENST00000397166.6:c.391A>C	ENSP00000380352.2:p.Ser131Arg
ENST00000519857.5:n.588A>C
ENST00000520272.6:c.391A>C	ENSP00000429932.2:p.Ser131Arg
ENST00000526237.5:c.220+1350A>C	ENSP00000436994.1:n.220+1350A>C
ENST00000526370.1:n.490+54A>C
ENST00000527415.5:c.301A>C	ENSP00000432024.1:p.Ser101Arg
ENST00000527834.5:c.391A>C	ENSP00000432433.1:p.Ser131Arg
ENST00000528358.5:c.385A>C	ENSP00000433118.1:p.Ser129Arg
ENST00000529642.1:c.103A>C	ENSP00000436444.1:p.Ser35Arg
ENST00000532222.5:c.391A>C	ENSP00000433578.1:p.Ser131Arg
ENST00000533100.5:c.391A>C	ENSP00000432678.1:p.Ser131Arg
XM_005273454.1:c.391A>C	XP_005273511.1:p.Ser131Arg
XM_005273455.2:c.391A>C	XP_005273512.1:p.Ser131Arg
XM_005273456.2:c.391A>C	XP_005273513.1:p.Ser131Arg
XM_011544455.1:c.391A>C	XP_011542757.1:p.Ser131Arg
XM_011544456.1:c.391A>C	XP_011542758.1:p.Ser131Arg
XM_011544456.2:c.391A>C	XP_011542758.1:p.Ser131Arg
XM_017013255.2:c.-595A>C	XP_016868744.1:n.-595A>C
XR_001745504.2:n.674A>C
XR_001745506.2:n.674A>C
XR_247123.1:n.916A>C
XR_949383.1:n.916A>C
XR_949384.1:n.916A>C
XR_949385.1:n.916A>C
XR_949386.1:n.916A>C
XR_949387.1:n.916A>C