Canonical Allele Identifier: CA348048088

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs2105371630
• gnomAD v4: 2-108897092-T-C
• MyVariant Identifiers: chr2:g.109513548T>C (hg19) ; chr2:g.108897092T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897092T>C , CM000664.2:g.108897092T>C	GRCh38
NC_000002.11:g.109513548T>C , CM000664.1:g.109513548T>C	GRCh37
NC_000002.10:g.108879980T>C	NCBI36
NG_008257.1:g.97281A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.1162A>G (EDAR) MANE Select	ENSP00000258443.2:p.Ile388Val
ENST00000258443.6:c.1162A>G (EDAR)	ENSP00000258443.2:p.Ile388Val
ENST00000376651.1:c.1258A>G (EDAR)	ENSP00000365839.1:p.Ile420Val
ENST00000409271.5:c.1258A>G (EDAR)	ENSP00000386371.1:p.Ile420Val
NM_022336.3:c.1162A>G (EDAR)	NP_071731.1:p.Ile388Val
XM_006712204.1:c.1258A>G (EDAR)	XP_006712267.1:p.Ile420Val
XM_011510502.1:c.1309A>G (EDAR)	XP_011508804.1:p.Ile437Val
XM_011510503.1:c.1213A>G (EDAR)	XP_011508805.1:p.Ile405Val
XM_011510504.1:c.589A>G (EDAR)	XP_011508806.1:p.Ile197Val
XM_011510502.2:c.1402A>G (EDAR)	XP_011508804.2:p.Ile468Val
XM_011510503.2:c.1306A>G (EDAR)	XP_011508805.2:p.Ile436Val
XM_017004623.2:c.8370+124046T>C (RANBP2)	XP_016860112.1:n.8370+124046T>C
NM_022336.4:c.1162A>G (EDAR) MANE Select	NP_071731.1:p.Ile388Val