Canonical Allele Identifier: CA348115698

Gene: EDAR RANBP2

Linked Data

• ClinVar Variation Id: 522911
• ClinVar RCV Id: RCV000626106
• dbSNP Id: rs1553448320
• MyVariant Identifiers: chr2:g.109545732C>G (hg19) ; chr2:g.108929276C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108929276C>G , CM000664.2:g.108929276C>G	GRCh38
NC_000002.11:g.109545732C>G , CM000664.1:g.109545732C>G	GRCh37
NC_000002.10:g.108912164C>G	NCBI36
NG_008257.1:g.65097G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.278G>C (EDAR) MANE Select	ENSP00000258443.2:p.Cys93Ser
ENST00000258443.6:c.278G>C (EDAR)	ENSP00000258443.2:p.Cys93Ser
ENST00000376651.1:c.278G>C (EDAR)	ENSP00000365839.1:p.Cys93Ser
ENST00000409271.5:c.278G>C (EDAR)	ENSP00000386371.1:p.Cys93Ser
NM_022336.3:c.278G>C (EDAR)	NP_071731.1:p.Cys93Ser
XM_006712204.1:c.278G>C (EDAR)	XP_006712267.1:p.Cys93Ser
XM_011510502.1:c.329G>C (EDAR)	XP_011508804.1:p.Cys110Ser
XM_011510503.1:c.329G>C (EDAR)	XP_011508805.1:p.Cys110Ser
XM_011510502.2:c.422G>C (EDAR)	XP_011508804.2:p.Cys141Ser
XM_011510503.2:c.422G>C (EDAR)	XP_011508805.2:p.Cys141Ser
XM_017004623.2:c.8370+156230C>G (RANBP2)	XP_016860112.1:n.8370+156230C>G
NM_022336.4:c.278G>C (EDAR) MANE Select	NP_071731.1:p.Cys93Ser