Canonical Allele Identifier: CA348048010

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs1454708268
• gnomAD v2: 2-109513513-G-T
• gnomAD v4: 2-108897057-G-T
• MyVariant Identifiers: chr2:g.109513513G>T (hg19) ; chr2:g.108897057G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897057G>T , CM000664.2:g.108897057G>T	GRCh38
NC_000002.11:g.109513513G>T , CM000664.1:g.109513513G>T	GRCh37
NC_000002.10:g.108879945G>T	NCBI36
NG_008257.1:g.97316C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000258443.7:c.1197C>A (EDAR) MANE Select	ENSP00000258443.2:p.Asp399Glu
ENST00000258443.6:c.1197C>A (EDAR)	ENSP00000258443.2:p.Asp399Glu
ENST00000376651.1:c.1293C>A (EDAR)	ENSP00000365839.1:p.Asp431Glu
ENST00000409271.5:c.1293C>A (EDAR)	ENSP00000386371.1:p.Asp431Glu
NM_022336.3:c.1197C>A (EDAR)	NP_071731.1:p.Asp399Glu
XM_006712204.1:c.1293C>A (EDAR)	XP_006712267.1:p.Asp431Glu
XM_011510502.1:c.1344C>A (EDAR)	XP_011508804.1:p.Asp448Glu
XM_011510503.1:c.1248C>A (EDAR)	XP_011508805.1:p.Asp416Glu
XM_011510504.1:c.624C>A (EDAR)	XP_011508806.1:p.Asp208Glu
XM_011510502.2:c.1437C>A (EDAR)	XP_011508804.2:p.Asp479Glu
XM_011510503.2:c.1341C>A (EDAR)	XP_011508805.2:p.Asp447Glu
XM_017004623.2:c.8370+124011G>T (RANBP2)	XP_016860112.1:n.8370+124011G>T
NM_022336.4:c.1197C>A (EDAR) MANE Select	NP_071731.1:p.Asp399Glu