Canonical Allele Identifier: CA891842936

Gene: EDAR RANBP2

Linked Data

• ClinVar Variation Id: 566967
• ClinVar RCV Id: RCV002233144
• dbSNP Id: rs1558793736
• MyVariant Identifiers: chr2:g.109513621del (hg19) ; chr2:g.108897165del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897165del , CM000664.2:g.108897165del	GRCh38
NC_000002.11:g.109513621del , CM000664.1:g.109513621del	GRCh37
NC_000002.10:g.108880053del	NCBI36
NG_008257.1:g.97208del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.1089del (EDAR) MANE Select	ENSP00000258443.2:p.Tyr364ThrfsTer8
ENST00000258443.6:c.1089del (EDAR)	ENSP00000258443.2:p.Tyr364ThrfsTer8
ENST00000376651.1:c.1185del (EDAR)	ENSP00000365839.1:p.Tyr396ThrfsTer8
ENST00000409271.5:c.1185del (EDAR)	ENSP00000386371.1:p.Tyr396ThrfsTer8
NM_022336.3:c.1089del (EDAR)	NP_071731.1:p.Tyr364ThrfsTer8
XM_006712204.1:c.1185del (EDAR)	XP_006712267.1:p.Tyr396ThrfsTer8
XM_011510502.1:c.1236del (EDAR)	XP_011508804.1:p.Tyr413ThrfsTer8
XM_011510503.1:c.1140del (EDAR)	XP_011508805.1:p.Tyr381ThrfsTer8
XM_011510504.1:c.516del (EDAR)	XP_011508806.1:p.Tyr173ThrfsTer8
XM_011510502.2:c.1329del (EDAR)	XP_011508804.2:p.Tyr444ThrfsTer8
XM_011510503.2:c.1233del (EDAR)	XP_011508805.2:p.Tyr412ThrfsTer8
XM_017004623.2:c.8370+124119del (RANBP2)	XP_016860112.1:n.8370+124119del
NM_022336.4:c.1089del (EDAR) MANE Select	NP_071731.1:p.Tyr364ThrfsTer8