Canonical Allele Identifier: CA754907338

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs1342884864
• gnomAD v3: 2-108930767-AC-A
• gnomAD v4: 2-108930767-AC-A
• MyVariant Identifiers: chr2:g.109547224del (hg19) ; chr2:g.108930768del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108930769del , CM000664.2:g.108930769del	GRCh38
NC_000002.11:g.109547225del , CM000664.1:g.109547225del	GRCh37
NC_000002.10:g.108913657del	NCBI36
NG_008257.1:g.63605del

Transcript Alleles

HGVS	Amino-acid change
ENST00000258443.7:c.51+196del (EDAR) MANE Select	ENSP00000258443.2:n.51+196del
ENST00000258443.6:c.51+196del (EDAR)	ENSP00000258443.2:n.51+196del
ENST00000376651.1:c.51+196del (EDAR)	ENSP00000365839.1:n.51+196del
ENST00000409271.5:c.51+196del (EDAR)	ENSP00000386371.1:n.51+196del
NM_022336.3:c.51+196del (EDAR)	NP_071731.1:n.51+196del
XM_006712204.1:c.51+196del (EDAR)	XP_006712267.1:n.51+196del
XM_011510502.1:c.102+196del (EDAR)	XP_011508804.1:n.102+196del
XM_011510503.1:c.102+196del (EDAR)	XP_011508805.1:n.102+196del
XM_011510502.2:c.195+196del (EDAR)	XP_011508804.2:n.195+196del
XM_011510503.2:c.195+196del (EDAR)	XP_011508805.2:n.195+196del
XM_017004623.2:c.8370+157723del (RANBP2)	XP_016860112.1:n.8370+157723del
NM_022336.4:c.51+196del (EDAR) MANE Select	NP_071731.1:n.51+196del