Canonical Allele Identifier: CA754961546

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs1186470179
• MyVariant Identifiers: chr2:g.109524679_109524682del (hg19) ; chr2:g.108908223_108908226del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108908230_108908233del , CM000664.2:g.108908230_108908233del	GRCh38
NC_000002.11:g.109524686_109524689del , CM000664.1:g.109524686_109524689del	GRCh37
NC_000002.10:g.108891118_108891121del	NCBI36
NG_008257.1:g.86147_86150del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.804-207_804-204del (EDAR) MANE Select	ENSP00000258443.2:n.804-207_804-204del
ENST00000258443.6:c.804-207_804-204del (EDAR)	ENSP00000258443.2:n.804-207_804-204del
ENST00000376651.1:c.900-207_900-204del (EDAR)	ENSP00000365839.1:n.900-207_900-204del
ENST00000409271.5:c.900-207_900-204del (EDAR)	ENSP00000386371.1:n.900-207_900-204del
NM_022336.3:c.804-207_804-204del (EDAR)	NP_071731.1:n.804-207_804-204del
XM_006712204.1:c.900-207_900-204del (EDAR)	XP_006712267.1:n.900-207_900-204del
XM_011510502.1:c.951-207_951-204del (EDAR)	XP_011508804.1:n.951-207_951-204del
XM_011510503.1:c.855-207_855-204del (EDAR)	XP_011508805.1:n.855-207_855-204del
XM_011510504.1:c.231-207_231-204del (EDAR)	XP_011508806.1:n.231-207_231-204del
XM_011510502.2:c.1044-207_1044-204del (EDAR)	XP_011508804.2:n.1044-207_1044-204del
XM_011510503.2:c.948-207_948-204del (EDAR)	XP_011508805.2:n.948-207_948-204del
XM_017004623.2:c.8370+135184_8370+135187del (RANBP2)	XP_016860112.1:n.8370+135184_8370+135187del
NM_022336.4:c.804-207_804-204del (EDAR) MANE Select	NP_071731.1:n.804-207_804-204del