Canonical Allele Identifier: CA348047953

Gene: EDAR RANBP2

Linked Data

• ClinVar Variation Id: 934620
• ClinVar RCV Id: RCV002240938
• dbSNP Id: rs1696610594
• MyVariant Identifiers: chr2:g.109513496C>T (hg19) ; chr2:g.108897040C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000258443.7:c.1214G>A (EDAR) MANE Select	ENSP00000258443.2:p.Gly405Asp
ENST00000258443.6:c.1214G>A (EDAR)	ENSP00000258443.2:p.Gly405Asp
ENST00000376651.1:c.1310G>A (EDAR)	ENSP00000365839.1:p.Gly437Asp
ENST00000409271.5:c.1310G>A (EDAR)	ENSP00000386371.1:p.Gly437Asp
NM_022336.3:c.1214G>A (EDAR)	NP_071731.1:p.Gly405Asp
XM_006712204.1:c.1310G>A (EDAR)	XP_006712267.1:p.Gly437Asp
XM_011510502.1:c.1361G>A (EDAR)	XP_011508804.1:p.Gly454Asp
XM_011510503.1:c.1265G>A (EDAR)	XP_011508805.1:p.Gly422Asp
XM_011510504.1:c.641G>A (EDAR)	XP_011508806.1:p.Gly214Asp
XM_011510502.2:c.1454G>A (EDAR)	XP_011508804.2:p.Gly485Asp
XM_011510503.2:c.1358G>A (EDAR)	XP_011508805.2:p.Gly453Asp
XM_017004623.2:c.8370+123994C>T (RANBP2)	XP_016860112.1:n.8370+123994C>T
NM_022336.4:c.1214G>A (EDAR) MANE Select	NP_071731.1:p.Gly405Asp