Canonical Allele Identifier: CA348050488

Gene: EDAR RANBP2

Linked Data

• ClinVar Variation Id: 522143
• ClinVar RCV Id: RCV000623679 ; RCV002533140
• dbSNP Id: rs1553444917
• MyVariant Identifiers: chr2:g.109522803T>A (hg19) ; chr2:g.108906347T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108906347T>A , CM000664.2:g.108906347T>A	GRCh38
NC_000002.11:g.109522803T>A , CM000664.1:g.109522803T>A	GRCh37
NC_000002.10:g.108889235T>A	NCBI36
NG_008257.1:g.88026A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.985A>T (EDAR) MANE Select	ENSP00000258443.2:p.Ile329Phe
ENST00000258443.6:c.985A>T (EDAR)	ENSP00000258443.2:p.Ile329Phe
ENST00000376651.1:c.1081A>T (EDAR)	ENSP00000365839.1:p.Ile361Phe
ENST00000409271.5:c.1081A>T (EDAR)	ENSP00000386371.1:p.Ile361Phe
NM_022336.3:c.985A>T (EDAR)	NP_071731.1:p.Ile329Phe
XM_006712204.1:c.1081A>T (EDAR)	XP_006712267.1:p.Ile361Phe
XM_011510502.1:c.1132A>T (EDAR)	XP_011508804.1:p.Ile378Phe
XM_011510503.1:c.1036A>T (EDAR)	XP_011508805.1:p.Ile346Phe
XM_011510504.1:c.412A>T (EDAR)	XP_011508806.1:p.Ile138Phe
XM_011510502.2:c.1225A>T (EDAR)	XP_011508804.2:p.Ile409Phe
XM_011510503.2:c.1129A>T (EDAR)	XP_011508805.2:p.Ile377Phe
XM_017004623.2:c.8370+133301T>A (RANBP2)	XP_016860112.1:n.8370+133301T>A
NM_022336.4:c.985A>T (EDAR) MANE Select	NP_071731.1:p.Ile329Phe