Canonical Allele Identifier: CA1824890

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs769878757
• ExAC: 2:109524382 C / T
• gnomAD v2: 2-109524382-C-T
• gnomAD v3: 2-108907926-C-T
• gnomAD v4: 2-108907926-C-T
• MyVariant Identifiers: chr2:g.109524382C>T (hg19) ; chr2:g.108907926C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108907926C>T , CM000664.2:g.108907926C>T	GRCh38
NC_000002.11:g.109524382C>T , CM000664.1:g.109524382C>T	GRCh37
NC_000002.10:g.108890814C>T	NCBI36
NG_008257.1:g.86447G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.897G>A (EDAR) MANE Select	ENSP00000258443.2:p.Glu299=
ENST00000258443.6:c.897G>A (EDAR)	ENSP00000258443.2:p.Glu299=
ENST00000376651.1:c.993G>A (EDAR)	ENSP00000365839.1:p.Glu331=
ENST00000409271.5:c.993G>A (EDAR)	ENSP00000386371.1:p.Glu331=
NM_022336.3:c.897G>A (EDAR)	NP_071731.1:p.Glu299=
XM_006712204.1:c.993G>A (EDAR)	XP_006712267.1:p.Glu331=
XM_011510502.1:c.1044G>A (EDAR)	XP_011508804.1:p.Glu348=
XM_011510503.1:c.948G>A (EDAR)	XP_011508805.1:p.Glu316=
XM_011510504.1:c.324G>A (EDAR)	XP_011508806.1:p.Glu108=
XM_011510502.2:c.1137G>A (EDAR)	XP_011508804.2:p.Glu379=
XM_011510503.2:c.1041G>A (EDAR)	XP_011508805.2:p.Glu347=
XM_017004623.2:c.8370+134880C>T (RANBP2)	XP_016860112.1:n.8370+134880C>T
NM_022336.4:c.897G>A (EDAR) MANE Select	NP_071731.1:p.Glu299=