Canonical Allele Identifier: CA1824812

Gene: EDAR RANBP2

Linked Data

• ClinVar Variation Id: 2947943
• ClinVar RCV Id: RCV003806765
• dbSNP Id: rs770369940
• ExAC: 2:109513575 C / T
• gnomAD v2: 2-109513575-C-T
• gnomAD v3: 2-108897119-C-T
• gnomAD v4: 2-108897119-C-T
• MyVariant Identifiers: chr2:g.109513575C>T (hg19) ; chr2:g.108897119C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897119C>T , CM000664.2:g.108897119C>T	GRCh38
NC_000002.11:g.109513575C>T , CM000664.1:g.109513575C>T	GRCh37
NC_000002.10:g.108880007C>T	NCBI36
NG_008257.1:g.97254G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000258443.7:c.1135G>A (EDAR) MANE Select	ENSP00000258443.2:p.Glu379Lys
ENST00000258443.6:c.1135G>A (EDAR)	ENSP00000258443.2:p.Glu379Lys
ENST00000376651.1:c.1231G>A (EDAR)	ENSP00000365839.1:p.Glu411Lys
ENST00000409271.5:c.1231G>A (EDAR)	ENSP00000386371.1:p.Glu411Lys
NM_022336.3:c.1135G>A (EDAR)	NP_071731.1:p.Glu379Lys
XM_006712204.1:c.1231G>A (EDAR)	XP_006712267.1:p.Glu411Lys
XM_011510502.1:c.1282G>A (EDAR)	XP_011508804.1:p.Glu428Lys
XM_011510503.1:c.1186G>A (EDAR)	XP_011508805.1:p.Glu396Lys
XM_011510504.1:c.562G>A (EDAR)	XP_011508806.1:p.Glu188Lys
XM_011510502.2:c.1375G>A (EDAR)	XP_011508804.2:p.Glu459Lys
XM_011510503.2:c.1279G>A (EDAR)	XP_011508805.2:p.Glu427Lys
XM_017004623.2:c.8370+124073C>T (RANBP2)	XP_016860112.1:n.8370+124073C>T
NM_022336.4:c.1135G>A (EDAR) MANE Select	NP_071731.1:p.Glu379Lys