Canonical Allele Identifier: CA427911792

Gene: EDAR RANBP2

Linked Data

• MyVariant Identifiers: chr2:g.109524340A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108907884A>T , CM000664.2:g.108907884A>T	GRCh38
NC_000002.11:g.109524340A>T , CM000664.1:g.109524340A>T	GRCh37
NC_000002.10:g.108890772A>T	NCBI36
NG_008257.1:g.86489T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000258443.7:c.939T>A (EDAR) MANE Select	ENSP00000258443.2:p.Ser313=
ENST00000258443.6:c.939T>A (EDAR)	ENSP00000258443.2:p.Ser313=
ENST00000376651.1:c.1035T>A (EDAR)	ENSP00000365839.1:p.Ser345=
ENST00000409271.5:c.1035T>A (EDAR)	ENSP00000386371.1:p.Ser345=
NM_022336.3:c.939T>A (EDAR)	NP_071731.1:p.Ser313=
XM_006712204.1:c.1035T>A (EDAR)	XP_006712267.1:p.Ser345=
XM_011510502.1:c.1086T>A (EDAR)	XP_011508804.1:p.Ser362=
XM_011510503.1:c.990T>A (EDAR)	XP_011508805.1:p.Ser330=
XM_011510504.1:c.366T>A (EDAR)	XP_011508806.1:p.Ser122=
XM_011510502.2:c.1179T>A (EDAR)	XP_011508804.2:p.Ser393=
XM_011510503.2:c.1083T>A (EDAR)	XP_011508805.2:p.Ser361=
XM_017004623.2:c.8370+134838A>T (RANBP2)	XP_016860112.1:n.8370+134838A>T
NM_022336.4:c.939T>A (EDAR) MANE Select	NP_071731.1:p.Ser313=