Canonical Allele Identifier: CA4962621

Gene: DMRT2

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.1056959G>C , CM000671.2:g.1056959G>C	GRCh38
NC_000009.11:g.1056959G>C , CM000671.1:g.1056959G>C	GRCh37
NC_000009.10:g.1046959G>C	NCBI36
NG_017051.1:g.11614G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358146.7:c.1372G>C MANE Select	ENSP00000350865.2:p.Glu458Gln
ENST00000259622.10:c.1866G>C	ENSP00000259622.6:n.1866G>C
ENST00000302441.7:c.904G>C	ENSP00000305785.7:p.Glu302Gln
ENST00000358146.6:c.1372G>C	ENSP00000350865.2:p.Glu458Gln
ENST00000382251.7:c.1372G>C	ENSP00000371686.3:p.Glu458Gln
ENST00000382255.7:c.*769G>C	ENSP00000371690.3:n.*769G>C
ENST00000634526.1:n.956G>C
ENST00000634824.1:n.852G>C
ENST00000635183.1:c.*735G>C	ENSP00000489226.1:n.*735G>C
NM_001130865.2:c.*769G>C	NP_001124337.1:n.*769G>C
NM_006557.6:c.*1185G>C	NP_006548.1:n.*1185G>C
NM_181872.4:c.1372G>C	NP_870987.2:p.Glu458Gln
XM_006716717.2:c.1372G>C	XP_006716780.1:p.Glu458Gln
XM_006716718.2:c.850G>C	XP_006716781.1:p.Glu284Gln
XM_011517687.1:c.1372G>C	XP_011515989.1:p.Glu458Gln
XM_011517689.1:c.1372G>C	XP_011515991.1:p.Glu458Gln
XM_011517690.1:c.1372G>C	XP_011515992.1:p.Glu458Gln
XM_011517691.1:c.1372G>C	XP_011515993.1:p.Glu458Gln
XM_011517692.1:c.1372G>C	XP_011515994.1:p.Glu458Gln
XM_011517693.1:c.1372G>C	XP_011515995.1:p.Glu458Gln
XM_011517694.1:c.673G>C	XP_011515996.1:p.Glu225Gln
XM_011517695.1:c.*1185G>C	XP_011515997.1:n.*1185G>C
XM_011517696.1:c.*769G>C	XP_011515998.1:n.*769G>C
XM_011517690.2:c.1372G>C	XP_011515992.1:p.Glu458Gln
XM_011517694.2:c.673G>C	XP_011515996.1:p.Glu225Gln
XM_017014213.1:c.1372G>C	XP_016869702.1:p.Glu458Gln
XM_017014214.1:c.1372G>C	XP_016869703.1:p.Glu458Gln
XM_017014215.1:c.1372G>C	XP_016869704.1:p.Glu458Gln
XM_017014216.2:c.*769G>C	XP_016869705.1:n.*769G>C
XM_024447384.1:c.673G>C	XP_024303152.1:p.Glu225Gln
NM_001370532.1:c.850G>C	NP_001357461.1:p.Glu284Gln
NM_001370533.1:c.*769G>C	NP_001357462.1:n.*769G>C
NM_006557.7:c.*1185G>C	NP_006548.1:n.*1185G>C
NM_181872.6:c.1372G>C MANE Select	NP_870987.2:p.Glu458Gln
NR_163472.1:n.1705G>C
NM_001130865.3:c.*769G>C	NP_001124337.1:n.*769G>C
NM_001387557.1:c.*769G>C	NP_001374486.1:n.*769G>C
NM_001387558.1:c.1372G>C	NP_001374487.1:p.Glu458Gln
NM_001387559.1:c.1372G>C	NP_001374488.1:p.Glu458Gln
NM_001387560.1:c.673G>C	NP_001374489.1:p.Glu225Gln