Canonical Allele Identifier: CA413422199

Gene: EDA2R

Linked Data

• dbSNP Id: rs1450104006
• MyVariant Identifiers: chrX:g.65825012C>G (hg19) ; chrX:g.66605170C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.66605170C>G , CM000685.2:g.66605170C>G	GRCh38
NC_000023.10:g.65825012C>G , CM000685.1:g.65825012C>G	GRCh37
NC_000023.9:g.65741737C>G	NCBI36
NG_013271.2:g.39097G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374719.8:c.144G>C MANE Select	ENSP00000363851.3:p.Arg48Ser
ENST00000253392.5:c.144G>C	ENSP00000253392.5:p.Arg48Ser
ENST00000374719.7:c.144G>C	ENSP00000363851.3:p.Arg48Ser
ENST00000396050.5:c.144G>C	ENSP00000379365.2:p.Arg48Ser
ENST00000451436.6:c.144G>C	ENSP00000415242.3:p.Arg48Ser
NM_001199687.2:c.144G>C	NP_001186616.1:p.Arg48Ser
NM_001242310.1:c.144G>C	NP_001229239.1:p.Arg48Ser
NM_021783.3:c.144G>C	NP_068555.1:p.Arg48Ser
XM_005262285.2:c.72-2373G>C	XP_005262342.1:n.72-2373G>C
XM_006724675.2:c.144G>C	XP_006724738.1:p.Arg48Ser
XM_011531000.1:c.144G>C	XP_011529302.1:p.Arg48Ser
XM_011531001.1:c.144G>C	XP_011529303.1:p.Arg48Ser
XM_011531002.1:c.144G>C	XP_011529304.1:p.Arg48Ser
XM_011531003.1:c.144G>C	XP_011529305.1:p.Arg48Ser
XM_011531004.1:c.144G>C	XP_011529306.1:p.Arg48Ser
XM_011531005.1:c.72-2373G>C	XP_011529307.1:n.72-2373G>C
XM_011531006.1:c.144G>C	XP_011529308.1:p.Arg48Ser
XM_011531007.1:c.144G>C	XP_011529309.1:p.Arg48Ser
XR_244499.2:n.254G>C
XR_938404.1:n.204G>C
XR_938405.1:n.254G>C
XR_938406.1:n.249G>C
NM_001324199.1:c.72-2373G>C	NP_001311128.1:n.72-2373G>C
NM_001324201.1:c.128G>C	NP_001311130.1:p.Gly43Ala
NM_001324202.1:c.72-2373G>C	NP_001311131.1:n.72-2373G>C
NM_001324204.1:c.56-2373G>C	NP_001311133.1:n.56-2373G>C
NM_001324205.1:c.56-2373G>C	NP_001311134.1:n.56-2373G>C
NM_001324206.1:c.144G>C	NP_001311135.1:p.Arg48Ser
NM_021783.4:c.144G>C	NP_068555.1:p.Arg48Ser
NR_136726.1:n.252G>C
NR_136727.1:n.254G>C
XM_011531003.2:c.144G>C	XP_011529305.1:p.Arg48Ser
XM_011531005.2:c.72-2373G>C	XP_011529307.1:n.72-2373G>C
XM_011531006.2:c.144G>C	XP_011529308.1:p.Arg48Ser
XM_011531007.2:c.144G>C	XP_011529309.1:p.Arg48Ser
XM_017029703.1:c.128G>C	XP_016885192.1:p.Gly43Ala
XM_017029704.1:c.144G>C	XP_016885193.1:p.Arg48Ser
XM_017029705.1:c.56-2373G>C	XP_016885194.1:n.56-2373G>C
XM_017029706.1:c.144G>C	XP_016885195.1:p.Arg48Ser
XM_017029707.1:c.72-2373G>C	XP_016885196.1:n.72-2373G>C
XM_017029708.1:c.72-2373G>C	XP_016885197.1:n.72-2373G>C
XR_938405.2:n.244G>C
NM_021783.5:c.144G>C MANE Select	NP_068555.2:p.Arg48Ser
NM_001324199.2:c.72-2373G>C	NP_001311128.2:n.72-2373G>C
NM_001324201.2:c.128G>C	NP_001311130.2:p.Gly43Ala
NM_001324202.2:c.72-2373G>C	NP_001311131.2:n.72-2373G>C
NM_001324204.2:c.56-2373G>C	NP_001311133.2:n.56-2373G>C
NM_001324205.2:c.56-2373G>C	NP_001311134.2:n.56-2373G>C
NM_001324206.2:c.144G>C	NP_001311135.2:p.Arg48Ser
NR_136726.2:n.223G>C
NR_136727.2:n.238G>C
NM_001199687.3:c.144G>C	NP_001186616.2:p.Arg48Ser