Canonical Allele Identifier: CA348048093

Gene: EDAR RANBP2

Linked Data

• MyVariant Identifiers: chr2:g.109513550T>C (hg19) ; chr2:g.108897094T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897094T>C , CM000664.2:g.108897094T>C	GRCh38
NC_000002.11:g.109513550T>C , CM000664.1:g.109513550T>C	GRCh37
NC_000002.10:g.108879982T>C	NCBI36
NG_008257.1:g.97279A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.1160A>G (EDAR) MANE Select	ENSP00000258443.2:p.Glu387Gly
ENST00000258443.6:c.1160A>G (EDAR)	ENSP00000258443.2:p.Glu387Gly
ENST00000376651.1:c.1256A>G (EDAR)	ENSP00000365839.1:p.Glu419Gly
ENST00000409271.5:c.1256A>G (EDAR)	ENSP00000386371.1:p.Glu419Gly
NM_022336.3:c.1160A>G (EDAR)	NP_071731.1:p.Glu387Gly
XM_006712204.1:c.1256A>G (EDAR)	XP_006712267.1:p.Glu419Gly
XM_011510502.1:c.1307A>G (EDAR)	XP_011508804.1:p.Glu436Gly
XM_011510503.1:c.1211A>G (EDAR)	XP_011508805.1:p.Glu404Gly
XM_011510504.1:c.587A>G (EDAR)	XP_011508806.1:p.Glu196Gly
XM_011510502.2:c.1400A>G (EDAR)	XP_011508804.2:p.Glu467Gly
XM_011510503.2:c.1304A>G (EDAR)	XP_011508805.2:p.Glu435Gly
XM_017004623.2:c.8370+124048T>C (RANBP2)	XP_016860112.1:n.8370+124048T>C
NM_022336.4:c.1160A>G (EDAR) MANE Select	NP_071731.1:p.Glu387Gly