Canonical Allele Identifier: CA2740095683

Gene: EDAR RANBP2

Linked Data

• ClinVar Variation Id: 2952436
• ClinVar RCV Id: RCV003815587

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108907894del , CM000664.2:g.108907894del	GRCh38
NC_000002.11:g.109524350del , CM000664.1:g.109524350del	GRCh37
NC_000002.10:g.108890782del	NCBI36
NG_008257.1:g.86481del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.931del (EDAR) MANE Select	ENSP00000258443.2:p.Glu311ArgfsTer?
ENST00000258443.6:c.931del (EDAR)	ENSP00000258443.2:p.Glu311ArgfsTer?
ENST00000376651.1:c.1027del (EDAR)	ENSP00000365839.1:p.Glu343ArgfsTer?
ENST00000409271.5:c.1027del (EDAR)	ENSP00000386371.1:p.Glu343ArgfsTer?
NM_022336.3:c.931del (EDAR)	NP_071731.1:p.Glu311ArgfsTer?
XM_006712204.1:c.1027del (EDAR)	XP_006712267.1:p.Glu343ArgfsTer?
XM_011510502.1:c.1078del (EDAR)	XP_011508804.1:p.Glu360ArgfsTer?
XM_011510503.1:c.982del (EDAR)	XP_011508805.1:p.Glu328ArgfsTer?
XM_011510504.1:c.358del (EDAR)	XP_011508806.1:p.Glu120ArgfsTer?
XM_011510502.2:c.1171del (EDAR)	XP_011508804.2:p.Glu391ArgfsTer?
XM_011510503.2:c.1075del (EDAR)	XP_011508805.2:p.Glu359ArgfsTer?
XM_017004623.2:c.8370+134848del (RANBP2)	XP_016860112.1:n.8370+134848del
NM_022336.4:c.931del (EDAR) MANE Select	NP_071731.1:p.Glu311ArgfsTer?