Canonical Allele Identifier: CA53464610

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs879008158
• gnomAD v4: 2-108896918-CA-C
• MyVariant Identifiers: chr2:g.109513375del (hg19) ; chr2:g.108896919del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108896919del , CM000664.2:g.108896919del	GRCh38
NC_000002.11:g.109513375del , CM000664.1:g.109513375del	GRCh37
NC_000002.10:g.108879807del	NCBI36
NG_008257.1:g.97454del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.1335del (EDAR) MANE Select	ENSP00000258443.2:p.His445GlnfsTer?
ENST00000258443.6:c.1335del (EDAR)	ENSP00000258443.2:p.His445GlnfsTer?
ENST00000376651.1:c.1431del (EDAR)	ENSP00000365839.1:p.His477GlnfsTer?
ENST00000409271.5:c.1431del (EDAR)	ENSP00000386371.1:p.His477GlnfsTer?
NM_022336.3:c.1335del (EDAR)	NP_071731.1:p.His445GlnfsTer?
XM_006712204.1:c.1431del (EDAR)	XP_006712267.1:p.His477GlnfsTer?
XM_011510502.1:c.1482del (EDAR)	XP_011508804.1:p.His494GlnfsTer?
XM_011510503.1:c.1386del (EDAR)	XP_011508805.1:p.His462GlnfsTer?
XM_011510504.1:c.762del (EDAR)	XP_011508806.1:p.His254GlnfsTer?
XM_011510502.2:c.1575del (EDAR)	XP_011508804.2:p.His525GlnfsTer?
XM_011510503.2:c.1479del (EDAR)	XP_011508805.2:p.His493GlnfsTer?
XM_017004623.2:c.8370+123873del (RANBP2)	XP_016860112.1:n.8370+123873del
NM_022336.4:c.1335del (EDAR) MANE Select	NP_071731.1:p.His445GlnfsTer?