Canonical Allele Identifier: CA54012344

Gene: EDAR RANBP2

Linked Data

• ClinVar Variation Id: 2206654
• ClinVar RCV Id: RCV002641385
• dbSNP Id: rs377050594
• gnomAD v2: 2-109547461-C-G
• gnomAD v4: 2-108931005-C-G
• MyVariant Identifiers: chr2:g.109547461C>G (hg19) ; chr2:g.108931005C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108931005C>G , CM000664.2:g.108931005C>G	GRCh38
NC_000002.11:g.109547461C>G , CM000664.1:g.109547461C>G	GRCh37
NC_000002.10:g.108913893C>G	NCBI36
NG_008257.1:g.63368G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.10G>C (EDAR) MANE Select	ENSP00000258443.2:p.Val4Leu
ENST00000258443.6:c.10G>C (EDAR)	ENSP00000258443.2:p.Val4Leu
ENST00000376651.1:c.10G>C (EDAR)	ENSP00000365839.1:p.Val4Leu
ENST00000409271.5:c.10G>C (EDAR)	ENSP00000386371.1:p.Val4Leu
NM_022336.3:c.10G>C (EDAR)	NP_071731.1:p.Val4Leu
XM_006712204.1:c.10G>C (EDAR)	XP_006712267.1:p.Val4Leu
XM_011510502.1:c.61G>C (EDAR)	XP_011508804.1:p.Val21Leu
XM_011510503.1:c.61G>C (EDAR)	XP_011508805.1:p.Val21Leu
XM_011510502.2:c.154G>C (EDAR)	XP_011508804.2:p.Val52Leu
XM_011510503.2:c.154G>C (EDAR)	XP_011508805.2:p.Val52Leu
XM_017004623.2:c.8370+157959C>G (RANBP2)	XP_016860112.1:n.8370+157959C>G
NM_022336.4:c.10G>C (EDAR) MANE Select	NP_071731.1:p.Val4Leu