Canonical Allele Identifier: CA428204073

Gene: EDAR RANBP2

Linked Data

• MyVariant Identifiers: chr2:g.109513519G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897063G>A , CM000664.2:g.108897063G>A	GRCh38
NC_000002.11:g.109513519G>A , CM000664.1:g.109513519G>A	GRCh37
NC_000002.10:g.108879951G>A	NCBI36
NG_008257.1:g.97310C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000258443.7:c.1191C>T (EDAR) MANE Select	ENSP00000258443.2:p.Leu397=
ENST00000258443.6:c.1191C>T (EDAR)	ENSP00000258443.2:p.Leu397=
ENST00000376651.1:c.1287C>T (EDAR)	ENSP00000365839.1:p.Leu429=
ENST00000409271.5:c.1287C>T (EDAR)	ENSP00000386371.1:p.Leu429=
NM_022336.3:c.1191C>T (EDAR)	NP_071731.1:p.Leu397=
XM_006712204.1:c.1287C>T (EDAR)	XP_006712267.1:p.Leu429=
XM_011510502.1:c.1338C>T (EDAR)	XP_011508804.1:p.Leu446=
XM_011510503.1:c.1242C>T (EDAR)	XP_011508805.1:p.Leu414=
XM_011510504.1:c.618C>T (EDAR)	XP_011508806.1:p.Leu206=
XM_011510502.2:c.1431C>T (EDAR)	XP_011508804.2:p.Leu477=
XM_011510503.2:c.1335C>T (EDAR)	XP_011508805.2:p.Leu445=
XM_017004623.2:c.8370+124017G>A (RANBP2)	XP_016860112.1:n.8370+124017G>A
NM_022336.4:c.1191C>T (EDAR) MANE Select	NP_071731.1:p.Leu397=