Canonical Allele Identifier: CA348047651

Gene: EDAR RANBP2

Linked Data

• ClinVar Variation Id: 1714868
• ClinVar RCV Id: RCV002299214
• MyVariant Identifiers: chr2:g.109513428A>G (hg19) ; chr2:g.108896972A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108896972A>G , CM000664.2:g.108896972A>G	GRCh38
NC_000002.11:g.109513428A>G , CM000664.1:g.109513428A>G	GRCh37
NC_000002.10:g.108879860A>G	NCBI36
NG_008257.1:g.97401T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.1282T>C (EDAR) MANE Select	ENSP00000258443.2:p.Cys428Arg
ENST00000258443.6:c.1282T>C (EDAR)	ENSP00000258443.2:p.Cys428Arg
ENST00000376651.1:c.1378T>C (EDAR)	ENSP00000365839.1:p.Cys460Arg
ENST00000409271.5:c.1378T>C (EDAR)	ENSP00000386371.1:p.Cys460Arg
NM_022336.3:c.1282T>C (EDAR)	NP_071731.1:p.Cys428Arg
XM_006712204.1:c.1378T>C (EDAR)	XP_006712267.1:p.Cys460Arg
XM_011510502.1:c.1429T>C (EDAR)	XP_011508804.1:p.Cys477Arg
XM_011510503.1:c.1333T>C (EDAR)	XP_011508805.1:p.Cys445Arg
XM_011510504.1:c.709T>C (EDAR)	XP_011508806.1:p.Cys237Arg
XM_011510502.2:c.1522T>C (EDAR)	XP_011508804.2:p.Cys508Arg
XM_011510503.2:c.1426T>C (EDAR)	XP_011508805.2:p.Cys476Arg
XM_017004623.2:c.8370+123926A>G (RANBP2)	XP_016860112.1:n.8370+123926A>G
NM_022336.4:c.1282T>C (EDAR) MANE Select	NP_071731.1:p.Cys428Arg