Canonical Allele Identifier: CA54015545

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs745648929
• gnomAD v2: 2-109575640-C-T
• gnomAD v3: 2-108959184-C-T
• gnomAD v4: 2-108959184-C-T
• MyVariant Identifiers: chr2:g.109575640C>T (hg19) ; chr2:g.108959184C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108959184C>T , CM000664.2:g.108959184C>T	GRCh38
NC_000002.11:g.109575640C>T , CM000664.1:g.109575640C>T	GRCh37
NC_000002.10:g.108942072C>T	NCBI36
NG_008257.1:g.35189G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000258443.7:c.-18-28152G>A (EDAR) MANE Select	ENSP00000258443.2:n.-18-28152G>A
ENST00000258443.6:c.-18-28152G>A (EDAR)	ENSP00000258443.2:n.-18-28152G>A
ENST00000376651.1:c.-18-28152G>A (EDAR)	ENSP00000365839.1:n.-18-28152G>A
ENST00000409271.5:c.-134-18858G>A (EDAR)	ENSP00000386371.1:n.-134-18858G>A
NM_022336.3:c.-18-28152G>A (EDAR)	NP_071731.1:n.-18-28152G>A
XM_006712204.1:c.-18-28152G>A (EDAR)	XP_006712267.1:n.-18-28152G>A
XM_011510502.1:c.33+6439G>A (EDAR)	XP_011508804.1:n.33+6439G>A
XM_011510503.1:c.33+6439G>A (EDAR)	XP_011508805.1:n.33+6439G>A
XM_011510502.2:c.126+6439G>A (EDAR)	XP_011508804.2:n.126+6439G>A
XM_011510503.2:c.126+6439G>A (EDAR)	XP_011508805.2:n.126+6439G>A
XM_017004623.2:c.8370+186138C>T (RANBP2)	XP_016860112.1:n.8370+186138C>T
NM_022336.4:c.-18-28152G>A (EDAR) MANE Select	NP_071731.1:n.-18-28152G>A