Canonical Allele Identifier: CA348047957

Gene: EDAR RANBP2

Linked Data

• ClinVar Variation Id: 1034708
• ClinVar RCV Id: RCV001337468
• dbSNP Id: rs1696610650
• MyVariant Identifiers: chr2:g.109513497C>G (hg19) ; chr2:g.108897041C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897041C>G , CM000664.2:g.108897041C>G	GRCh38
NC_000002.11:g.109513497C>G , CM000664.1:g.109513497C>G	GRCh37
NC_000002.10:g.108879929C>G	NCBI36
NG_008257.1:g.97332G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.1213G>C (EDAR) MANE Select	ENSP00000258443.2:p.Gly405Arg
ENST00000258443.6:c.1213G>C (EDAR)	ENSP00000258443.2:p.Gly405Arg
ENST00000376651.1:c.1309G>C (EDAR)	ENSP00000365839.1:p.Gly437Arg
ENST00000409271.5:c.1309G>C (EDAR)	ENSP00000386371.1:p.Gly437Arg
NM_022336.3:c.1213G>C (EDAR)	NP_071731.1:p.Gly405Arg
XM_006712204.1:c.1309G>C (EDAR)	XP_006712267.1:p.Gly437Arg
XM_011510502.1:c.1360G>C (EDAR)	XP_011508804.1:p.Gly454Arg
XM_011510503.1:c.1264G>C (EDAR)	XP_011508805.1:p.Gly422Arg
XM_011510504.1:c.640G>C (EDAR)	XP_011508806.1:p.Gly214Arg
XM_011510502.2:c.1453G>C (EDAR)	XP_011508804.2:p.Gly485Arg
XM_011510503.2:c.1357G>C (EDAR)	XP_011508805.2:p.Gly453Arg
XM_017004623.2:c.8370+123995C>G (RANBP2)	XP_016860112.1:n.8370+123995C>G
NM_022336.4:c.1213G>C (EDAR) MANE Select	NP_071731.1:p.Gly405Arg