Canonical Allele Identifier: CA535180032

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs1350095105
• gnomAD v2: 2-109524656-A-ACC
• gnomAD v3: 2-108908200-A-ACC
• gnomAD v4: 2-108908200-A-ACC
• MyVariant Identifiers: chr2:g.109524656_109524657insCC (hg19) ; chr2:g.108908200_108908201insCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108908201_108908202dup , CM000664.2:g.108908201_108908202dup	GRCh38
NC_000002.11:g.109524657_109524658dup , CM000664.1:g.109524657_109524658dup	GRCh37
NC_000002.10:g.108891089_108891090dup	NCBI36
NG_008257.1:g.86171_86172dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.804-183_804-182dup (EDAR) MANE Select	ENSP00000258443.2:n.804-183_804-182dup
ENST00000258443.6:c.804-183_804-182dup (EDAR)	ENSP00000258443.2:n.804-183_804-182dup
ENST00000376651.1:c.900-183_900-182dup (EDAR)	ENSP00000365839.1:n.900-183_900-182dup
ENST00000409271.5:c.900-183_900-182dup (EDAR)	ENSP00000386371.1:n.900-183_900-182dup
NM_022336.3:c.804-183_804-182dup (EDAR)	NP_071731.1:n.804-183_804-182dup
XM_006712204.1:c.900-183_900-182dup (EDAR)	XP_006712267.1:n.900-183_900-182dup
XM_011510502.1:c.951-183_951-182dup (EDAR)	XP_011508804.1:n.951-183_951-182dup
XM_011510503.1:c.855-183_855-182dup (EDAR)	XP_011508805.1:n.855-183_855-182dup
XM_011510504.1:c.231-183_231-182dup (EDAR)	XP_011508806.1:n.231-183_231-182dup
XM_011510502.2:c.1044-183_1044-182dup (EDAR)	XP_011508804.2:n.1044-183_1044-182dup
XM_011510503.2:c.948-183_948-182dup (EDAR)	XP_011508805.2:n.948-183_948-182dup
XM_017004623.2:c.8370+135155_8370+135156dup (RANBP2)	XP_016860112.1:n.8370+135155_8370+135156dup
NM_022336.4:c.804-183_804-182dup (EDAR) MANE Select	NP_071731.1:n.804-183_804-182dup