Canonical Allele Identifier: CA891842934

Gene: EDAR RANBP2

Linked Data

• ClinVar Variation Id: 579211
• ClinVar RCV Id: RCV002233379
• dbSNP Id: rs1558793621
• MyVariant Identifiers: chr2:g.109513541dup (hg19) ; chr2:g.108897085dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897089dup , CM000664.2:g.108897089dup	GRCh38
NC_000002.11:g.109513545dup , CM000664.1:g.109513545dup	GRCh37
NC_000002.10:g.108879977dup	NCBI36
NG_008257.1:g.97288dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.1169dup (EDAR) MANE Select	ENSP00000258443.2:p.Met391HisfsTer9
ENST00000258443.6:c.1169dup (EDAR)	ENSP00000258443.2:p.Met391HisfsTer9
ENST00000376651.1:c.1265dup (EDAR)	ENSP00000365839.1:p.Met423HisfsTer9
ENST00000409271.5:c.1265dup (EDAR)	ENSP00000386371.1:p.Met423HisfsTer9
NM_022336.3:c.1169dup (EDAR)	NP_071731.1:p.Met391HisfsTer9
XM_006712204.1:c.1265dup (EDAR)	XP_006712267.1:p.Met423HisfsTer9
XM_011510502.1:c.1316dup (EDAR)	XP_011508804.1:p.Met440HisfsTer9
XM_011510503.1:c.1220dup (EDAR)	XP_011508805.1:p.Met408HisfsTer9
XM_011510504.1:c.596dup (EDAR)	XP_011508806.1:p.Met200HisfsTer9
XM_011510502.2:c.1409dup (EDAR)	XP_011508804.2:p.Met471HisfsTer9
XM_011510503.2:c.1313dup (EDAR)	XP_011508805.2:p.Met439HisfsTer9
XM_017004623.2:c.8370+124043dup (RANBP2)	XP_016860112.1:n.8370+124043dup
NM_022336.4:c.1169dup (EDAR) MANE Select	NP_071731.1:p.Met391HisfsTer9