Canonical Allele Identifier: CA348050972

Gene: EDAR RANBP2

Linked Data

• gnomAD v4: 2-108907927-T-A
• MyVariant Identifiers: chr2:g.109524383T>A (hg19) ; chr2:g.108907927T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108907927T>A , CM000664.2:g.108907927T>A	GRCh38
NC_000002.11:g.109524383T>A , CM000664.1:g.109524383T>A	GRCh37
NC_000002.10:g.108890815T>A	NCBI36
NG_008257.1:g.86446A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.896A>T (EDAR) MANE Select	ENSP00000258443.2:p.Glu299Val
ENST00000258443.6:c.896A>T (EDAR)	ENSP00000258443.2:p.Glu299Val
ENST00000376651.1:c.992A>T (EDAR)	ENSP00000365839.1:p.Glu331Val
ENST00000409271.5:c.992A>T (EDAR)	ENSP00000386371.1:p.Glu331Val
NM_022336.3:c.896A>T (EDAR)	NP_071731.1:p.Glu299Val
XM_006712204.1:c.992A>T (EDAR)	XP_006712267.1:p.Glu331Val
XM_011510502.1:c.1043A>T (EDAR)	XP_011508804.1:p.Glu348Val
XM_011510503.1:c.947A>T (EDAR)	XP_011508805.1:p.Glu316Val
XM_011510504.1:c.323A>T (EDAR)	XP_011508806.1:p.Glu108Val
XM_011510502.2:c.1136A>T (EDAR)	XP_011508804.2:p.Glu379Val
XM_011510503.2:c.1040A>T (EDAR)	XP_011508805.2:p.Glu347Val
XM_017004623.2:c.8370+134881T>A (RANBP2)	XP_016860112.1:n.8370+134881T>A
NM_022336.4:c.896A>T (EDAR) MANE Select	NP_071731.1:p.Glu299Val