Canonical Allele Identifier: CA348050800

Gene: EDAR RANBP2

Linked Data

• MyVariant Identifiers: chr2:g.109524347T>G (hg19) ; chr2:g.108907891T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108907891T>G , CM000664.2:g.108907891T>G	GRCh38
NC_000002.11:g.109524347T>G , CM000664.1:g.109524347T>G	GRCh37
NC_000002.10:g.108890779T>G	NCBI36
NG_008257.1:g.86482A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.932A>C (EDAR) MANE Select	ENSP00000258443.2:p.Glu311Ala
ENST00000258443.6:c.932A>C (EDAR)	ENSP00000258443.2:p.Glu311Ala
ENST00000376651.1:c.1028A>C (EDAR)	ENSP00000365839.1:p.Glu343Ala
ENST00000409271.5:c.1028A>C (EDAR)	ENSP00000386371.1:p.Glu343Ala
NM_022336.3:c.932A>C (EDAR)	NP_071731.1:p.Glu311Ala
XM_006712204.1:c.1028A>C (EDAR)	XP_006712267.1:p.Glu343Ala
XM_011510502.1:c.1079A>C (EDAR)	XP_011508804.1:p.Glu360Ala
XM_011510503.1:c.983A>C (EDAR)	XP_011508805.1:p.Glu328Ala
XM_011510504.1:c.359A>C (EDAR)	XP_011508806.1:p.Glu120Ala
XM_011510502.2:c.1172A>C (EDAR)	XP_011508804.2:p.Glu391Ala
XM_011510503.2:c.1076A>C (EDAR)	XP_011508805.2:p.Glu359Ala
XM_017004623.2:c.8370+134845T>G (RANBP2)	XP_016860112.1:n.8370+134845T>G
NM_022336.4:c.932A>C (EDAR) MANE Select	NP_071731.1:p.Glu311Ala