Canonical Allele Identifier: CA1825248

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs564411406
• ExAC: 2:109547423 C / A
• gnomAD v2: 2-109547423-C-A
• gnomAD v3: 2-108930967-C-A
• gnomAD v4: 2-108930967-C-A
• MyVariant Identifiers: chr2:g.109547423C>A (hg19) ; chr2:g.108930967C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108930967C>A , CM000664.2:g.108930967C>A	GRCh38
NC_000002.11:g.109547423C>A , CM000664.1:g.109547423C>A	GRCh37
NC_000002.10:g.108913855C>A	NCBI36
NG_008257.1:g.63406G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000258443.7:c.48G>T (EDAR) MANE Select	ENSP00000258443.2:p.Leu16=
ENST00000258443.6:c.48G>T (EDAR)	ENSP00000258443.2:p.Leu16=
ENST00000376651.1:c.48G>T (EDAR)	ENSP00000365839.1:p.Leu16=
ENST00000409271.5:c.48G>T (EDAR)	ENSP00000386371.1:p.Leu16=
NM_022336.3:c.48G>T (EDAR)	NP_071731.1:p.Leu16=
XM_006712204.1:c.48G>T (EDAR)	XP_006712267.1:p.Leu16=
XM_011510502.1:c.99G>T (EDAR)	XP_011508804.1:p.Leu33=
XM_011510503.1:c.99G>T (EDAR)	XP_011508805.1:p.Leu33=
XM_011510502.2:c.192G>T (EDAR)	XP_011508804.2:p.Leu64=
XM_011510503.2:c.192G>T (EDAR)	XP_011508805.2:p.Leu64=
XM_017004623.2:c.8370+157921C>A (RANBP2)	XP_016860112.1:n.8370+157921C>A
NM_022336.4:c.48G>T (EDAR) MANE Select	NP_071731.1:p.Leu16=