Canonical Allele Identifier: CA1824813

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs773101527
• ExAC: 2:109513579 G / A
• gnomAD v2: 2-109513579-G-A
• gnomAD v3: 2-108897123-G-A
• gnomAD v4: 2-108897123-G-A
• COSMIC: COSM5793774 ; COSM5793775
• MyVariant Identifiers: chr2:g.109513579G>A (hg19) ; chr2:g.108897123G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897123G>A , CM000664.2:g.108897123G>A	GRCh38
NC_000002.11:g.109513579G>A , CM000664.1:g.109513579G>A	GRCh37
NC_000002.10:g.108880011G>A	NCBI36
NG_008257.1:g.97250C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.1131C>T (EDAR) MANE Select	ENSP00000258443.2:p.Leu377=
ENST00000258443.6:c.1131C>T (EDAR)	ENSP00000258443.2:p.Leu377=
ENST00000376651.1:c.1227C>T (EDAR)	ENSP00000365839.1:p.Leu409=
ENST00000409271.5:c.1227C>T (EDAR)	ENSP00000386371.1:p.Leu409=
NM_022336.3:c.1131C>T (EDAR)	NP_071731.1:p.Leu377=
XM_006712204.1:c.1227C>T (EDAR)	XP_006712267.1:p.Leu409=
XM_011510502.1:c.1278C>T (EDAR)	XP_011508804.1:p.Leu426=
XM_011510503.1:c.1182C>T (EDAR)	XP_011508805.1:p.Leu394=
XM_011510504.1:c.558C>T (EDAR)	XP_011508806.1:p.Leu186=
XM_011510502.2:c.1371C>T (EDAR)	XP_011508804.2:p.Leu457=
XM_011510503.2:c.1275C>T (EDAR)	XP_011508805.2:p.Leu425=
XM_017004623.2:c.8370+124077G>A (RANBP2)	XP_016860112.1:n.8370+124077G>A
NM_022336.4:c.1131C>T (EDAR) MANE Select	NP_071731.1:p.Leu377=