Canonical Allele Identifier: CA348047842

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs1696610288
• gnomAD v3: 2-108897016-G-A
• gnomAD v4: 2-108897016-G-A
• MyVariant Identifiers: chr2:g.109513472G>A (hg19) ; chr2:g.108897016G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897016G>A , CM000664.2:g.108897016G>A	GRCh38
NC_000002.11:g.109513472G>A , CM000664.1:g.109513472G>A	GRCh37
NC_000002.10:g.108879904G>A	NCBI36
NG_008257.1:g.97357C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.1238C>T (EDAR) MANE Select	ENSP00000258443.2:p.Thr413Ile
ENST00000258443.6:c.1238C>T (EDAR)	ENSP00000258443.2:p.Thr413Ile
ENST00000376651.1:c.1334C>T (EDAR)	ENSP00000365839.1:p.Thr445Ile
ENST00000409271.5:c.1334C>T (EDAR)	ENSP00000386371.1:p.Thr445Ile
NM_022336.3:c.1238C>T (EDAR)	NP_071731.1:p.Thr413Ile
XM_006712204.1:c.1334C>T (EDAR)	XP_006712267.1:p.Thr445Ile
XM_011510502.1:c.1385C>T (EDAR)	XP_011508804.1:p.Thr462Ile
XM_011510503.1:c.1289C>T (EDAR)	XP_011508805.1:p.Thr430Ile
XM_011510504.1:c.665C>T (EDAR)	XP_011508806.1:p.Thr222Ile
XM_011510502.2:c.1478C>T (EDAR)	XP_011508804.2:p.Thr493Ile
XM_011510503.2:c.1382C>T (EDAR)	XP_011508805.2:p.Thr461Ile
XM_017004623.2:c.8370+123970G>A (RANBP2)	XP_016860112.1:n.8370+123970G>A
NM_022336.4:c.1238C>T (EDAR) MANE Select	NP_071731.1:p.Thr413Ile