Canonical Allele Identifier: CA53465063

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs370727293
• gnomAD v2: 2-109513767-TAAA-T
• gnomAD v3: 2-108897311-TAAA-T
• gnomAD v4: 2-108897311-TAAA-T
• MyVariant Identifiers: chr2:g.109513768_109513770del (hg19) ; chr2:g.108897312_108897314del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897314_108897316del , CM000664.2:g.108897314_108897316del	GRCh38
NC_000002.11:g.109513770_109513772del , CM000664.1:g.109513770_109513772del	GRCh37
NC_000002.10:g.108880202_108880204del	NCBI36
NG_008257.1:g.97059_97061del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.1025-85_1025-83del (EDAR) MANE Select	ENSP00000258443.2:n.1025-85_1025-83del
ENST00000258443.6:c.1025-85_1025-83del (EDAR)	ENSP00000258443.2:n.1025-85_1025-83del
ENST00000376651.1:c.1121-85_1121-83del (EDAR)	ENSP00000365839.1:n.1121-85_1121-83del
ENST00000409271.5:c.1121-85_1121-83del (EDAR)	ENSP00000386371.1:n.1121-85_1121-83del
NM_022336.3:c.1025-85_1025-83del (EDAR)	NP_071731.1:n.1025-85_1025-83del
XM_006712204.1:c.1121-85_1121-83del (EDAR)	XP_006712267.1:n.1121-85_1121-83del
XM_011510502.1:c.1172-85_1172-83del (EDAR)	XP_011508804.1:n.1172-85_1172-83del
XM_011510503.1:c.1076-85_1076-83del (EDAR)	XP_011508805.1:n.1076-85_1076-83del
XM_011510504.1:c.452-85_452-83del (EDAR)	XP_011508806.1:n.452-85_452-83del
XM_011510502.2:c.1265-85_1265-83del (EDAR)	XP_011508804.2:n.1265-85_1265-83del
XM_011510503.2:c.1169-85_1169-83del (EDAR)	XP_011508805.2:n.1169-85_1169-83del
XM_017004623.2:c.8370+124268_8370+124270del (RANBP2)	XP_016860112.1:n.8370+124268_8370+124270del
NM_022336.4:c.1025-85_1025-83del (EDAR) MANE Select	NP_071731.1:n.1025-85_1025-83del