Canonical Allele Identifier: CA10436141
Gene: EDA2R HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs1385699

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.66605144C>T , CM000685.2:g.66605144C>T GRCh38
NC_000023.10:g.65824986C>T , CM000685.1:g.65824986C>T GRCh37
NC_000023.9:g.65741711C>T NCBI36
NG_013271.2:g.39123G>A

Transcript Alleles

HGVS Amino-acid change
NM_001199687.2:c.170G>A VV NP_001186616.1:p.Arg57Lys
NM_001242310.1:c.170G>A VV NP_001229239.1:p.Arg57Lys
NM_021783.3:c.170G>A VV NP_068555.1:p.Arg57Lys
XM_005262285.2:c.72-2347G>A XP_005262342.1:p.=
XM_006724675.2:c.170G>A XP_006724738.1:p.Arg57Lys
XM_011531000.1:c.170G>A XP_011529302.1:p.Arg57Lys
XM_011531001.1:c.170G>A XP_011529303.1:p.Arg57Lys
XM_011531002.1:c.170G>A XP_011529304.1:p.Arg57Lys
XM_011531003.1:c.170G>A XP_011529305.1:p.Arg57Lys
XM_011531004.1:c.170G>A XP_011529306.1:p.Arg57Lys
XM_011531005.1:c.72-2347G>A XP_011529307.1:p.=
XM_011531006.1:c.170G>A XP_011529308.1:p.Arg57Lys
XM_011531007.1:c.170G>A XP_011529309.1:p.Arg57Lys
XR_244499.2:n.280G>A
XR_938404.1:n.230G>A
XR_938405.1:n.280G>A
XR_938406.1:n.275G>A
NM_001324199.1:c.72-2347G>A VV NP_001311128.1:p.=
NM_001324201.1:c.154G>A VV NP_001311130.1:p.Asp52Asn
NM_001324202.1:c.72-2347G>A VV NP_001311131.1:p.=
NM_001324204.1:c.56-2347G>A VV NP_001311133.1:p.=
NM_001324205.1:c.56-2347G>A VV NP_001311134.1:p.=
NM_001324206.1:c.170G>A VV NP_001311135.1:p.Arg57Lys
NM_021783.4:c.170G>A VV NP_068555.1:p.Arg57Lys
NR_136726.1:n.278G>A
NR_136727.1:n.280G>A
XM_011531003.2:c.170G>A XP_011529305.1:p.Arg57Lys
XM_011531005.2:c.72-2347G>A XP_011529307.1:p.=
XM_011531006.2:c.170G>A XP_011529308.1:p.Arg57Lys
XM_011531007.2:c.170G>A XP_011529309.1:p.Arg57Lys
XM_017029703.1:c.154G>A XP_016885192.1:p.Asp52Asn
XM_017029704.1:c.170G>A XP_016885193.1:p.Arg57Lys
XM_017029705.1:c.56-2347G>A XP_016885194.1:p.=
XM_017029706.1:c.170G>A XP_016885195.1:p.Arg57Lys
XM_017029707.1:c.72-2347G>A XP_016885196.1:p.=
XM_017029708.1:c.72-2347G>A XP_016885197.1:p.=
XR_938405.2:n.270G>A
NM_021783.5:c.170G>A VV MANE Preferred NP_068555.2:p.Arg57Lys
ENST00000253392.5:n.170G>A ENSP00000253392.5:p.Arg57Lys
ENST00000374719.7:c.170G>A ENSP00000363851.3:p.Arg57Lys
ENST00000396050.5:c.170G>A ENSP00000379365.2:p.Arg57Lys
ENST00000451436.6:c.170G>A ENSP00000415242.3:p.Arg57Lys