Canonical Allele Identifier: CA428203939

Gene: EDAR RANBP2

Linked Data

• MyVariant Identifiers: chr2:g.109513456A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897000A>G , CM000664.2:g.108897000A>G	GRCh38
NC_000002.11:g.109513456A>G , CM000664.1:g.109513456A>G	GRCh37
NC_000002.10:g.108879888A>G	NCBI36
NG_008257.1:g.97373T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000258443.7:c.1254T>C (EDAR) MANE Select	ENSP00000258443.2:p.Ile418=
ENST00000258443.6:c.1254T>C (EDAR)	ENSP00000258443.2:p.Ile418=
ENST00000376651.1:c.1350T>C (EDAR)	ENSP00000365839.1:p.Ile450=
ENST00000409271.5:c.1350T>C (EDAR)	ENSP00000386371.1:p.Ile450=
NM_022336.3:c.1254T>C (EDAR)	NP_071731.1:p.Ile418=
XM_006712204.1:c.1350T>C (EDAR)	XP_006712267.1:p.Ile450=
XM_011510502.1:c.1401T>C (EDAR)	XP_011508804.1:p.Ile467=
XM_011510503.1:c.1305T>C (EDAR)	XP_011508805.1:p.Ile435=
XM_011510504.1:c.681T>C (EDAR)	XP_011508806.1:p.Ile227=
XM_011510502.2:c.1494T>C (EDAR)	XP_011508804.2:p.Ile498=
XM_011510503.2:c.1398T>C (EDAR)	XP_011508805.2:p.Ile466=
XM_017004623.2:c.8370+123954A>G (RANBP2)	XP_016860112.1:n.8370+123954A>G
NM_022336.4:c.1254T>C (EDAR) MANE Select	NP_071731.1:p.Ile418=