Canonical Allele Identifier: CA428203906

Gene: EDAR RANBP2

Linked Data

• gnomAD v4: 2-108896973-C-T
• MyVariant Identifiers: chr2:g.109513429C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108896973C>T , CM000664.2:g.108896973C>T	GRCh38
NC_000002.11:g.109513429C>T , CM000664.1:g.109513429C>T	GRCh37
NC_000002.10:g.108879861C>T	NCBI36
NG_008257.1:g.97400G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000258443.7:c.1281G>A (EDAR) MANE Select	ENSP00000258443.2:p.Leu427=
ENST00000258443.6:c.1281G>A (EDAR)	ENSP00000258443.2:p.Leu427=
ENST00000376651.1:c.1377G>A (EDAR)	ENSP00000365839.1:p.Leu459=
ENST00000409271.5:c.1377G>A (EDAR)	ENSP00000386371.1:p.Leu459=
NM_022336.3:c.1281G>A (EDAR)	NP_071731.1:p.Leu427=
XM_006712204.1:c.1377G>A (EDAR)	XP_006712267.1:p.Leu459=
XM_011510502.1:c.1428G>A (EDAR)	XP_011508804.1:p.Leu476=
XM_011510503.1:c.1332G>A (EDAR)	XP_011508805.1:p.Leu444=
XM_011510504.1:c.708G>A (EDAR)	XP_011508806.1:p.Leu236=
XM_011510502.2:c.1521G>A (EDAR)	XP_011508804.2:p.Leu507=
XM_011510503.2:c.1425G>A (EDAR)	XP_011508805.2:p.Leu475=
XM_017004623.2:c.8370+123927C>T (RANBP2)	XP_016860112.1:n.8370+123927C>T
NM_022336.4:c.1281G>A (EDAR) MANE Select	NP_071731.1:p.Leu427=