Canonical Allele Identifier: CA54012150

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs955846975
• gnomAD v4: 2-108929326-CG-C
• MyVariant Identifiers: chr2:g.109545783del (hg19) ; chr2:g.108929327del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108929327del , CM000664.2:g.108929327del	GRCh38
NC_000002.11:g.109545783del , CM000664.1:g.109545783del	GRCh37
NC_000002.10:g.108912215del	NCBI36
NG_008257.1:g.65046del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.227del (EDAR) MANE Select	ENSP00000258443.2:p.Ala76GlyfsTer27
ENST00000258443.6:c.227del (EDAR)	ENSP00000258443.2:p.Ala76GlyfsTer27
ENST00000376651.1:c.227del (EDAR)	ENSP00000365839.1:p.Ala76GlyfsTer27
ENST00000409271.5:c.227del (EDAR)	ENSP00000386371.1:p.Ala76GlyfsTer27
NM_022336.3:c.227del (EDAR)	NP_071731.1:p.Ala76GlyfsTer27
XM_006712204.1:c.227del (EDAR)	XP_006712267.1:p.Ala76GlyfsTer27
XM_011510502.1:c.278del (EDAR)	XP_011508804.1:p.Ala93GlyfsTer27
XM_011510503.1:c.278del (EDAR)	XP_011508805.1:p.Ala93GlyfsTer27
XM_011510502.2:c.371del (EDAR)	XP_011508804.2:p.Ala124GlyfsTer27
XM_011510503.2:c.371del (EDAR)	XP_011508805.2:p.Ala124GlyfsTer27
XM_017004623.2:c.8370+156281del (RANBP2)	XP_016860112.1:n.8370+156281del
NM_022336.4:c.227del (EDAR) MANE Select	NP_071731.1:p.Ala76GlyfsTer27