Canonical Allele Identifier: CA348047951

Gene: EDAR RANBP2

Linked Data

• ClinVar Variation Id: 853527
• ClinVar RCV Id: RCV001058350
• dbSNP Id: rs1696610594
• MyVariant Identifiers: chr2:g.109513496C>G (hg19) ; chr2:g.108897040C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897040C>G , CM000664.2:g.108897040C>G	GRCh38
NC_000002.11:g.109513496C>G , CM000664.1:g.109513496C>G	GRCh37
NC_000002.10:g.108879928C>G	NCBI36
NG_008257.1:g.97333G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.1214G>C (EDAR) MANE Select	ENSP00000258443.2:p.Gly405Ala
ENST00000258443.6:c.1214G>C (EDAR)	ENSP00000258443.2:p.Gly405Ala
ENST00000376651.1:c.1310G>C (EDAR)	ENSP00000365839.1:p.Gly437Ala
ENST00000409271.5:c.1310G>C (EDAR)	ENSP00000386371.1:p.Gly437Ala
NM_022336.3:c.1214G>C (EDAR)	NP_071731.1:p.Gly405Ala
XM_006712204.1:c.1310G>C (EDAR)	XP_006712267.1:p.Gly437Ala
XM_011510502.1:c.1361G>C (EDAR)	XP_011508804.1:p.Gly454Ala
XM_011510503.1:c.1265G>C (EDAR)	XP_011508805.1:p.Gly422Ala
XM_011510504.1:c.641G>C (EDAR)	XP_011508806.1:p.Gly214Ala
XM_011510502.2:c.1454G>C (EDAR)	XP_011508804.2:p.Gly485Ala
XM_011510503.2:c.1358G>C (EDAR)	XP_011508805.2:p.Gly453Ala
XM_017004623.2:c.8370+123994C>G (RANBP2)	XP_016860112.1:n.8370+123994C>G
NM_022336.4:c.1214G>C (EDAR) MANE Select	NP_071731.1:p.Gly405Ala