Canonical Allele Identifier: CA348048011

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs1315780504
• gnomAD v2: 2-109513514-T-G
• gnomAD v4: 2-108897058-T-G
• MyVariant Identifiers: chr2:g.109513514T>G (hg19) ; chr2:g.108897058T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000258443.7:c.1196A>C (EDAR) MANE Select	ENSP00000258443.2:p.Asp399Ala
ENST00000258443.6:c.1196A>C (EDAR)	ENSP00000258443.2:p.Asp399Ala
ENST00000376651.1:c.1292A>C (EDAR)	ENSP00000365839.1:p.Asp431Ala
ENST00000409271.5:c.1292A>C (EDAR)	ENSP00000386371.1:p.Asp431Ala
NM_022336.3:c.1196A>C (EDAR)	NP_071731.1:p.Asp399Ala
XM_006712204.1:c.1292A>C (EDAR)	XP_006712267.1:p.Asp431Ala
XM_011510502.1:c.1343A>C (EDAR)	XP_011508804.1:p.Asp448Ala
XM_011510503.1:c.1247A>C (EDAR)	XP_011508805.1:p.Asp416Ala
XM_011510504.1:c.623A>C (EDAR)	XP_011508806.1:p.Asp208Ala
XM_011510502.2:c.1436A>C (EDAR)	XP_011508804.2:p.Asp479Ala
XM_011510503.2:c.1340A>C (EDAR)	XP_011508805.2:p.Asp447Ala
XM_017004623.2:c.8370+124012T>G (RANBP2)	XP_016860112.1:n.8370+124012T>G
NM_022336.4:c.1196A>C (EDAR) MANE Select	NP_071731.1:p.Asp399Ala