Canonical Allele Identifier: CA754960928

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs1487979416
• gnomAD v3: 2-108907646-CTCCA-C
• gnomAD v4: 2-108907646-CTCCA-C
• MyVariant Identifiers: chr2:g.109524103_109524106del (hg19) ; chr2:g.108907647_108907650del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108907647_108907650del , CM000664.2:g.108907647_108907650del	GRCh38
NC_000002.11:g.109524103_109524106del , CM000664.1:g.109524103_109524106del	GRCh37
NC_000002.10:g.108890535_108890538del	NCBI36
NG_008257.1:g.86723_86726del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.963+210_963+213del (EDAR) MANE Select	ENSP00000258443.2:n.963+210_963+213del
ENST00000258443.6:c.963+210_963+213del (EDAR)	ENSP00000258443.2:n.963+210_963+213del
ENST00000376651.1:c.1059+210_1059+213del (EDAR)	ENSP00000365839.1:n.1059+210_1059+213del
ENST00000409271.5:c.1059+210_1059+213del (EDAR)	ENSP00000386371.1:n.1059+210_1059+213del
NM_022336.3:c.963+210_963+213del (EDAR)	NP_071731.1:n.963+210_963+213del
XM_006712204.1:c.1059+210_1059+213del (EDAR)	XP_006712267.1:n.1059+210_1059+213del
XM_011510502.1:c.1110+210_1110+213del (EDAR)	XP_011508804.1:n.1110+210_1110+213del
XM_011510503.1:c.1014+210_1014+213del (EDAR)	XP_011508805.1:n.1014+210_1014+213del
XM_011510504.1:c.390+210_390+213del (EDAR)	XP_011508806.1:n.390+210_390+213del
XM_011510502.2:c.1203+210_1203+213del (EDAR)	XP_011508804.2:n.1203+210_1203+213del
XM_011510503.2:c.1107+210_1107+213del (EDAR)	XP_011508805.2:n.1107+210_1107+213del
XM_017004623.2:c.8370+134601_8370+134604del (RANBP2)	XP_016860112.1:n.8370+134601_8370+134604del
NM_022336.4:c.963+210_963+213del (EDAR) MANE Select	NP_071731.1:n.963+210_963+213del