Canonical Allele Identifier: CA348115673

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs1697319370
• gnomAD v4: 2-108929265-A-G
• MyVariant Identifiers: chr2:g.109545721A>G (hg19) ; chr2:g.108929265A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108929265A>G , CM000664.2:g.108929265A>G	GRCh38
NC_000002.11:g.109545721A>G , CM000664.1:g.109545721A>G	GRCh37
NC_000002.10:g.108912153A>G	NCBI36
NG_008257.1:g.65108T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000258443.7:c.289T>C (EDAR) MANE Select	ENSP00000258443.2:p.Phe97Leu
ENST00000258443.6:c.289T>C (EDAR)	ENSP00000258443.2:p.Phe97Leu
ENST00000376651.1:c.289T>C (EDAR)	ENSP00000365839.1:p.Phe97Leu
ENST00000409271.5:c.289T>C (EDAR)	ENSP00000386371.1:p.Phe97Leu
NM_022336.3:c.289T>C (EDAR)	NP_071731.1:p.Phe97Leu
XM_006712204.1:c.289T>C (EDAR)	XP_006712267.1:p.Phe97Leu
XM_011510502.1:c.340T>C (EDAR)	XP_011508804.1:p.Phe114Leu
XM_011510503.1:c.340T>C (EDAR)	XP_011508805.1:p.Phe114Leu
XM_011510502.2:c.433T>C (EDAR)	XP_011508804.2:p.Phe145Leu
XM_011510503.2:c.433T>C (EDAR)	XP_011508805.2:p.Phe145Leu
XM_017004623.2:c.8370+156219A>G (RANBP2)	XP_016860112.1:n.8370+156219A>G
NM_022336.4:c.289T>C (EDAR) MANE Select	NP_071731.1:p.Phe97Leu