Canonical Allele Identifier: CA658795840

Gene: EDAR RANBP2

Linked Data

• ClinVar Variation Id: 532547
• ClinVar RCV Id: RCV002234525
• dbSNP Id: rs1553443360
• gnomAD v4: 2-108897059-CAA-C
• MyVariant Identifiers: chr2:g.109513516_109513517del (hg19) ; chr2:g.108897060_108897061del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897061_108897062del , CM000664.2:g.108897061_108897062del	GRCh38
NC_000002.11:g.109513517_109513518del , CM000664.1:g.109513517_109513518del	GRCh37
NC_000002.10:g.108879949_108879950del	NCBI36
NG_008257.1:g.97312_97313del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.1193_1194del (EDAR) MANE Select	ENSP00000258443.2:p.Phe398Ter
ENST00000258443.6:c.1193_1194del (EDAR)	ENSP00000258443.2:p.Phe398Ter
ENST00000376651.1:c.1289_1290del (EDAR)	ENSP00000365839.1:p.Phe430Ter
ENST00000409271.5:c.1289_1290del (EDAR)	ENSP00000386371.1:p.Phe430Ter
NM_022336.3:c.1193_1194del (EDAR)	NP_071731.1:p.Phe398Ter
XM_006712204.1:c.1289_1290del (EDAR)	XP_006712267.1:p.Phe430Ter
XM_011510502.1:c.1340_1341del (EDAR)	XP_011508804.1:p.Phe447Ter
XM_011510503.1:c.1244_1245del (EDAR)	XP_011508805.1:p.Phe415Ter
XM_011510504.1:c.620_621del (EDAR)	XP_011508806.1:p.Phe207Ter
XM_011510502.2:c.1433_1434del (EDAR)	XP_011508804.2:p.Phe478Ter
XM_011510503.2:c.1337_1338del (EDAR)	XP_011508805.2:p.Phe446Ter
XM_017004623.2:c.8370+124015_8370+124016del (RANBP2)	XP_016860112.1:n.8370+124015_8370+124016del
NM_022336.4:c.1193_1194del (EDAR) MANE Select	NP_071731.1:p.Phe398Ter