Canonical Allele Identifier: CA348048012

Gene: EDAR RANBP2

Linked Data

• gnomAD v4: 2-108897058-T-C
• MyVariant Identifiers: chr2:g.109513514T>C (hg19) ; chr2:g.108897058T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897058T>C , CM000664.2:g.108897058T>C	GRCh38
NC_000002.11:g.109513514T>C , CM000664.1:g.109513514T>C	GRCh37
NC_000002.10:g.108879946T>C	NCBI36
NG_008257.1:g.97315A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.1196A>G (EDAR) MANE Select	ENSP00000258443.2:p.Asp399Gly
ENST00000258443.6:c.1196A>G (EDAR)	ENSP00000258443.2:p.Asp399Gly
ENST00000376651.1:c.1292A>G (EDAR)	ENSP00000365839.1:p.Asp431Gly
ENST00000409271.5:c.1292A>G (EDAR)	ENSP00000386371.1:p.Asp431Gly
NM_022336.3:c.1196A>G (EDAR)	NP_071731.1:p.Asp399Gly
XM_006712204.1:c.1292A>G (EDAR)	XP_006712267.1:p.Asp431Gly
XM_011510502.1:c.1343A>G (EDAR)	XP_011508804.1:p.Asp448Gly
XM_011510503.1:c.1247A>G (EDAR)	XP_011508805.1:p.Asp416Gly
XM_011510504.1:c.623A>G (EDAR)	XP_011508806.1:p.Asp208Gly
XM_011510502.2:c.1436A>G (EDAR)	XP_011508804.2:p.Asp479Gly
XM_011510503.2:c.1340A>G (EDAR)	XP_011508805.2:p.Asp447Gly
XM_017004623.2:c.8370+124012T>C (RANBP2)	XP_016860112.1:n.8370+124012T>C
NM_022336.4:c.1196A>G (EDAR) MANE Select	NP_071731.1:p.Asp399Gly