Canonical Allele Identifier: CA348115701

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs1697319680
• gnomAD v3: 2-108929277-A-G
• gnomAD v4: 2-108929277-A-G
• MyVariant Identifiers: chr2:g.109545733A>G (hg19) ; chr2:g.108929277A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108929277A>G , CM000664.2:g.108929277A>G	GRCh38
NC_000002.11:g.109545733A>G , CM000664.1:g.109545733A>G	GRCh37
NC_000002.10:g.108912165A>G	NCBI36
NG_008257.1:g.65096T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000258443.7:c.277T>C (EDAR) MANE Select	ENSP00000258443.2:p.Cys93Arg
ENST00000258443.6:c.277T>C (EDAR)	ENSP00000258443.2:p.Cys93Arg
ENST00000376651.1:c.277T>C (EDAR)	ENSP00000365839.1:p.Cys93Arg
ENST00000409271.5:c.277T>C (EDAR)	ENSP00000386371.1:p.Cys93Arg
NM_022336.3:c.277T>C (EDAR)	NP_071731.1:p.Cys93Arg
XM_006712204.1:c.277T>C (EDAR)	XP_006712267.1:p.Cys93Arg
XM_011510502.1:c.328T>C (EDAR)	XP_011508804.1:p.Cys110Arg
XM_011510503.1:c.328T>C (EDAR)	XP_011508805.1:p.Cys110Arg
XM_011510502.2:c.421T>C (EDAR)	XP_011508804.2:p.Cys141Arg
XM_011510503.2:c.421T>C (EDAR)	XP_011508805.2:p.Cys141Arg
XM_017004623.2:c.8370+156231A>G (RANBP2)	XP_016860112.1:n.8370+156231A>G
NM_022336.4:c.277T>C (EDAR) MANE Select	NP_071731.1:p.Cys93Arg