Canonical Allele Identifier: CA348051005

Gene: EDAR RANBP2

Linked Data

• gnomAD v4: 2-108907944-G-C
• MyVariant Identifiers: chr2:g.109524400G>C (hg19) ; chr2:g.108907944G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108907944G>C , CM000664.2:g.108907944G>C	GRCh38
NC_000002.11:g.109524400G>C , CM000664.1:g.109524400G>C	GRCh37
NC_000002.10:g.108890832G>C	NCBI36
NG_008257.1:g.86429C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.879C>G (EDAR) MANE Select	ENSP00000258443.2:p.Asp293Glu
ENST00000258443.6:c.879C>G (EDAR)	ENSP00000258443.2:p.Asp293Glu
ENST00000376651.1:c.975C>G (EDAR)	ENSP00000365839.1:p.Asp325Glu
ENST00000409271.5:c.975C>G (EDAR)	ENSP00000386371.1:p.Asp325Glu
NM_022336.3:c.879C>G (EDAR)	NP_071731.1:p.Asp293Glu
XM_006712204.1:c.975C>G (EDAR)	XP_006712267.1:p.Asp325Glu
XM_011510502.1:c.1026C>G (EDAR)	XP_011508804.1:p.Asp342Glu
XM_011510503.1:c.930C>G (EDAR)	XP_011508805.1:p.Asp310Glu
XM_011510504.1:c.306C>G (EDAR)	XP_011508806.1:p.Asp102Glu
XM_011510502.2:c.1119C>G (EDAR)	XP_011508804.2:p.Asp373Glu
XM_011510503.2:c.1023C>G (EDAR)	XP_011508805.2:p.Asp341Glu
XM_017004623.2:c.8370+134898G>C (RANBP2)	XP_016860112.1:n.8370+134898G>C
NM_022336.4:c.879C>G (EDAR) MANE Select	NP_071731.1:p.Asp293Glu