Canonical Allele Identifier: CA754956341

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs1291405539
• gnomAD v3: 2-108897330-A-AT
• gnomAD v4: 2-108897330-A-AT
• MyVariant Identifiers: chr2:g.109513786_109513787insT (hg19) ; chr2:g.108897330_108897331insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897337dup , CM000664.2:g.108897337dup	GRCh38
NC_000002.11:g.109513793dup , CM000664.1:g.109513793dup	GRCh37
NC_000002.10:g.108880225dup	NCBI36
NG_008257.1:g.97042dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.1025-102dup (EDAR) MANE Select	ENSP00000258443.2:n.1025-102dup
ENST00000258443.6:c.1025-102dup (EDAR)	ENSP00000258443.2:n.1025-102dup
ENST00000376651.1:c.1121-102dup (EDAR)	ENSP00000365839.1:n.1121-102dup
ENST00000409271.5:c.1121-102dup (EDAR)	ENSP00000386371.1:n.1121-102dup
NM_022336.3:c.1025-102dup (EDAR)	NP_071731.1:n.1025-102dup
XM_006712204.1:c.1121-102dup (EDAR)	XP_006712267.1:n.1121-102dup
XM_011510502.1:c.1172-102dup (EDAR)	XP_011508804.1:n.1172-102dup
XM_011510503.1:c.1076-102dup (EDAR)	XP_011508805.1:n.1076-102dup
XM_011510504.1:c.452-102dup (EDAR)	XP_011508806.1:n.452-102dup
XM_011510502.2:c.1265-102dup (EDAR)	XP_011508804.2:n.1265-102dup
XM_011510503.2:c.1169-102dup (EDAR)	XP_011508805.2:n.1169-102dup
XM_017004623.2:c.8370+124291dup (RANBP2)	XP_016860112.1:n.8370+124291dup
NM_022336.4:c.1025-102dup (EDAR) MANE Select	NP_071731.1:n.1025-102dup