Canonical Allele Identifier: CA4716177

Gene: DDHD2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.38247755C>T , CM000670.2:g.38247755C>T	GRCh38
NC_000008.10:g.38105273C>T , CM000670.1:g.38105273C>T	GRCh37
NC_000008.9:g.38224430C>T	NCBI36
NG_033875.1:g.21265C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397166.7:c.1168C>T MANE Select	ENSP00000380352.2:p.Leu390=
ENST00000397166.6:c.1168C>T	ENSP00000380352.2:p.Leu390=
ENST00000517385.5:c.25C>T	ENSP00000429017.1:p.Leu9=
ENST00000520272.6:c.1168C>T	ENSP00000429932.2:p.Leu390=
ENST00000527415.5:c.*528C>T	ENSP00000432024.1:n.*528C>T
ENST00000528504.5:n.160C>T
ENST00000528888.5:n.741C>T
ENST00000532106.1:c.503+1455C>T
NM_001164232.1:c.1168C>T	NP_001157704.1:p.Leu390=
NM_015214.2:c.1168C>T	NP_056029.2:p.Leu390=
XM_005273454.1:c.1168C>T	XP_005273511.1:p.Leu390=
XM_005273455.2:c.1168C>T	XP_005273512.1:p.Leu390=
XM_005273456.2:c.1078C>T	XP_005273513.1:p.Leu360=
XM_005273457.2:c.25C>T	XP_005273514.1:p.Leu9=
XM_011544455.1:c.1168C>T	XP_011542757.1:p.Leu390=
XM_011544456.1:c.1168C>T	XP_011542758.1:p.Leu390=
XR_247123.1:n.1625C>T
XR_949383.1:n.1693C>T
XR_949384.1:n.1693C>T
XR_949385.1:n.1693C>T
XR_949386.1:n.1693C>T
XR_949387.1:n.1693C>T
NM_001362911.1:c.1168C>T	NP_001349840.1:p.Leu390=
NM_001362912.1:c.1168C>T	NP_001349841.1:p.Leu390=
NM_001362913.1:c.1078C>T	NP_001349842.1:p.Leu360=
NM_001362914.1:c.1168C>T	NP_001349843.1:p.Leu390=
NR_156416.1:n.1477C>T
NR_156417.1:n.1477C>T
XM_011544456.2:c.1168C>T	XP_011542758.1:p.Leu390=
XM_017013255.2:c.25C>T	XP_016868744.1:p.Leu9=
XR_001745504.2:n.1451C>T
XR_001745506.2:n.1383C>T
NM_001362911.2:c.1168C>T	NP_001349840.1:p.Leu390=
NM_001362912.2:c.1168C>T	NP_001349841.1:p.Leu390=
NM_015214.3:c.1168C>T MANE Select	NP_056029.2:p.Leu390=
NR_156417.2:n.1383C>T
NM_001164232.2:c.1168C>T	NP_001157704.1:p.Leu390=
NM_001362913.2:c.1078C>T	NP_001349842.1:p.Leu360=
NM_001362914.2:c.1168C>T	NP_001349843.1:p.Leu390=
NR_156416.2:n.1383C>T