Canonical Allele Identifier: CA535179331

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs1211151012
• gnomAD v2: 2-109513768-AAAAATTATTTGAAAAAAATTTTTTT-A
• MyVariant Identifiers: chr2:g.109513769_109513793del (hg19) ; chr2:g.108897313_108897337del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897321_108897345del , CM000664.2:g.108897321_108897345del	GRCh38
NC_000002.11:g.109513777_109513801del , CM000664.1:g.109513777_109513801del	GRCh37
NC_000002.10:g.108880209_108880233del	NCBI36
NG_008257.1:g.97036_97060del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.1025-108_1025-84del (EDAR) MANE Select	ENSP00000258443.2:n.1025-108_1025-84del
ENST00000258443.6:c.1025-108_1025-84del (EDAR)	ENSP00000258443.2:n.1025-108_1025-84del
ENST00000376651.1:c.1121-108_1121-84del (EDAR)	ENSP00000365839.1:n.1121-108_1121-84del
ENST00000409271.5:c.1121-108_1121-84del (EDAR)	ENSP00000386371.1:n.1121-108_1121-84del
NM_022336.3:c.1025-108_1025-84del (EDAR)	NP_071731.1:n.1025-108_1025-84del
XM_006712204.1:c.1121-108_1121-84del (EDAR)	XP_006712267.1:n.1121-108_1121-84del
XM_011510502.1:c.1172-108_1172-84del (EDAR)	XP_011508804.1:n.1172-108_1172-84del
XM_011510503.1:c.1076-108_1076-84del (EDAR)	XP_011508805.1:n.1076-108_1076-84del
XM_011510504.1:c.452-108_452-84del (EDAR)	XP_011508806.1:n.452-108_452-84del
XM_011510502.2:c.1265-108_1265-84del (EDAR)	XP_011508804.2:n.1265-108_1265-84del
XM_011510503.2:c.1169-108_1169-84del (EDAR)	XP_011508805.2:n.1169-108_1169-84del
XM_017004623.2:c.8370+124275_8370+124299del (RANBP2)	XP_016860112.1:n.8370+124275_8370+124299del
NM_022336.4:c.1025-108_1025-84del (EDAR) MANE Select	NP_071731.1:n.1025-108_1025-84del