Canonical Allele Identifier: CA1825158

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs768236009
• ExAC: 2:109545819 G / GTCATGAAAACCAACTAA
• MyVariant Identifiers: chr2:g.109545819_109545820insTCATGAAAACCAACTAA (hg19) ; chr2:g.108929363_108929364insTCATGAAAACCAACTAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108929364_108929365insCATGAAAACCAACTAAT , CM000664.2:g.108929364_108929365insCATGAAAACCAACTAAT	GRCh38
NC_000002.11:g.109545820_109545821insCATGAAAACCAACTAAT , CM000664.1:g.109545820_109545821insCATGAAAACCAACTAAT	GRCh37
NC_000002.10:g.108912252_108912253insCATGAAAACCAACTAAT	NCBI36
NG_008257.1:g.65009_65010insTTAGTTGGTTTTCATGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000258443.7:c.190_191insTTAGTTGGTTTTCATGA (EDAR) MANE Select	ENSP00000258443.2:p.Thr64IlefsTer6
ENST00000258443.6:c.190_191insTTAGTTGGTTTTCATGA (EDAR)	ENSP00000258443.2:p.Thr64IlefsTer6
ENST00000376651.1:c.190_191insTTAGTTGGTTTTCATGA (EDAR)	ENSP00000365839.1:p.Thr64IlefsTer6
ENST00000409271.5:c.190_191insTTAGTTGGTTTTCATGA (EDAR)	ENSP00000386371.1:p.Thr64IlefsTer6
NM_022336.3:c.190_191insTTAGTTGGTTTTCATGA (EDAR)	NP_071731.1:p.Thr64IlefsTer6
XM_006712204.1:c.190_191insTTAGTTGGTTTTCATGA (EDAR)	XP_006712267.1:p.Thr64IlefsTer6
XM_011510502.1:c.241_242insTTAGTTGGTTTTCATGA (EDAR)	XP_011508804.1:p.Thr81IlefsTer6
XM_011510503.1:c.241_242insTTAGTTGGTTTTCATGA (EDAR)	XP_011508805.1:p.Thr81IlefsTer6
XM_011510502.2:c.334_335insTTAGTTGGTTTTCATGA (EDAR)	XP_011508804.2:p.Thr112IlefsTer6
XM_011510503.2:c.334_335insTTAGTTGGTTTTCATGA (EDAR)	XP_011508805.2:p.Thr112IlefsTer6
XM_017004623.2:c.8370+156318_8370+156319insCATGAAAACCAACTAAT (RANBP2)	XP_016860112.1:n.8370+156318_8370+156319i...
NM_022336.4:c.190_191insTTAGTTGGTTTTCATGA (EDAR) MANE Select	NP_071731.1:p.Thr64IlefsTer6