Canonical Allele Identifier: CA348048126

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs1471093049
• gnomAD v2: 2-109513565-C-T
• gnomAD v4: 2-108897109-C-T
• MyVariant Identifiers: chr2:g.109513565C>T (hg19) ; chr2:g.108897109C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897109C>T , CM000664.2:g.108897109C>T	GRCh38
NC_000002.11:g.109513565C>T , CM000664.1:g.109513565C>T	GRCh37
NC_000002.10:g.108879997C>T	NCBI36
NG_008257.1:g.97264G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.1145G>A (EDAR) MANE Select	ENSP00000258443.2:p.Gly382Asp
ENST00000258443.6:c.1145G>A (EDAR)	ENSP00000258443.2:p.Gly382Asp
ENST00000376651.1:c.1241G>A (EDAR)	ENSP00000365839.1:p.Gly414Asp
ENST00000409271.5:c.1241G>A (EDAR)	ENSP00000386371.1:p.Gly414Asp
NM_022336.3:c.1145G>A (EDAR)	NP_071731.1:p.Gly382Asp
XM_006712204.1:c.1241G>A (EDAR)	XP_006712267.1:p.Gly414Asp
XM_011510502.1:c.1292G>A (EDAR)	XP_011508804.1:p.Gly431Asp
XM_011510503.1:c.1196G>A (EDAR)	XP_011508805.1:p.Gly399Asp
XM_011510504.1:c.572G>A (EDAR)	XP_011508806.1:p.Gly191Asp
XM_011510502.2:c.1385G>A (EDAR)	XP_011508804.2:p.Gly462Asp
XM_011510503.2:c.1289G>A (EDAR)	XP_011508805.2:p.Gly430Asp
XM_017004623.2:c.8370+124063C>T (RANBP2)	XP_016860112.1:n.8370+124063C>T
NM_022336.4:c.1145G>A (EDAR) MANE Select	NP_071731.1:p.Gly382Asp