Canonical Allele Identifier: CA348048154

Gene: EDAR RANBP2

Linked Data

• ClinVar Variation Id: 463876
• ClinVar RCV Id: RCV002231725
• dbSNP Id: rs1310296844
• gnomAD v2: 2-109513578-C-T
• gnomAD v3: 2-108897122-C-T
• gnomAD v4: 2-108897122-C-T
• MyVariant Identifiers: chr2:g.109513578C>T (hg19) ; chr2:g.108897122C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897122C>T , CM000664.2:g.108897122C>T	GRCh38
NC_000002.11:g.109513578C>T , CM000664.1:g.109513578C>T	GRCh37
NC_000002.10:g.108880010C>T	NCBI36
NG_008257.1:g.97251G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000258443.7:c.1132G>A (EDAR) MANE Select	ENSP00000258443.2:p.Ala378Thr
ENST00000258443.6:c.1132G>A (EDAR)	ENSP00000258443.2:p.Ala378Thr
ENST00000376651.1:c.1228G>A (EDAR)	ENSP00000365839.1:p.Ala410Thr
ENST00000409271.5:c.1228G>A (EDAR)	ENSP00000386371.1:p.Ala410Thr
NM_022336.3:c.1132G>A (EDAR)	NP_071731.1:p.Ala378Thr
XM_006712204.1:c.1228G>A (EDAR)	XP_006712267.1:p.Ala410Thr
XM_011510502.1:c.1279G>A (EDAR)	XP_011508804.1:p.Ala427Thr
XM_011510503.1:c.1183G>A (EDAR)	XP_011508805.1:p.Ala395Thr
XM_011510504.1:c.559G>A (EDAR)	XP_011508806.1:p.Ala187Thr
XM_011510502.2:c.1372G>A (EDAR)	XP_011508804.2:p.Ala458Thr
XM_011510503.2:c.1276G>A (EDAR)	XP_011508805.2:p.Ala426Thr
XM_017004623.2:c.8370+124076C>T (RANBP2)	XP_016860112.1:n.8370+124076C>T
NM_022336.4:c.1132G>A (EDAR) MANE Select	NP_071731.1:p.Ala378Thr