Canonical Allele Identifier: CA1824896

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs767366642
• ExAC: 2:109524393 C / G
• gnomAD v2: 2-109524393-C-G
• gnomAD v3: 2-108907937-C-G
• gnomAD v4: 2-108907937-C-G
• MyVariant Identifiers: chr2:g.109524393C>G (hg19) ; chr2:g.108907937C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108907937C>G , CM000664.2:g.108907937C>G	GRCh38
NC_000002.11:g.109524393C>G , CM000664.1:g.109524393C>G	GRCh37
NC_000002.10:g.108890825C>G	NCBI36
NG_008257.1:g.86436G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.886G>C (EDAR) MANE Select	ENSP00000258443.2:p.Gly296Arg
ENST00000258443.6:c.886G>C (EDAR)	ENSP00000258443.2:p.Gly296Arg
ENST00000376651.1:c.982G>C (EDAR)	ENSP00000365839.1:p.Gly328Arg
ENST00000409271.5:c.982G>C (EDAR)	ENSP00000386371.1:p.Gly328Arg
NM_022336.3:c.886G>C (EDAR)	NP_071731.1:p.Gly296Arg
XM_006712204.1:c.982G>C (EDAR)	XP_006712267.1:p.Gly328Arg
XM_011510502.1:c.1033G>C (EDAR)	XP_011508804.1:p.Gly345Arg
XM_011510503.1:c.937G>C (EDAR)	XP_011508805.1:p.Gly313Arg
XM_011510504.1:c.313G>C (EDAR)	XP_011508806.1:p.Gly105Arg
XM_011510502.2:c.1126G>C (EDAR)	XP_011508804.2:p.Gly376Arg
XM_011510503.2:c.1030G>C (EDAR)	XP_011508805.2:p.Gly344Arg
XM_017004623.2:c.8370+134891C>G (RANBP2)	XP_016860112.1:n.8370+134891C>G
NM_022336.4:c.886G>C (EDAR) MANE Select	NP_071731.1:p.Gly296Arg