Canonical Allele Identifier: CA428204019

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs1574361837
• MyVariant Identifiers: chr2:g.109513495G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897039G>C , CM000664.2:g.108897039G>C	GRCh38
NC_000002.11:g.109513495G>C , CM000664.1:g.109513495G>C	GRCh37
NC_000002.10:g.108879927G>C	NCBI36
NG_008257.1:g.97334C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.1215C>G (EDAR) MANE Select	ENSP00000258443.2:p.Gly405=
ENST00000258443.6:c.1215C>G (EDAR)	ENSP00000258443.2:p.Gly405=
ENST00000376651.1:c.1311C>G (EDAR)	ENSP00000365839.1:p.Gly437=
ENST00000409271.5:c.1311C>G (EDAR)	ENSP00000386371.1:p.Gly437=
NM_022336.3:c.1215C>G (EDAR)	NP_071731.1:p.Gly405=
XM_006712204.1:c.1311C>G (EDAR)	XP_006712267.1:p.Gly437=
XM_011510502.1:c.1362C>G (EDAR)	XP_011508804.1:p.Gly454=
XM_011510503.1:c.1266C>G (EDAR)	XP_011508805.1:p.Gly422=
XM_011510504.1:c.642C>G (EDAR)	XP_011508806.1:p.Gly214=
XM_011510502.2:c.1455C>G (EDAR)	XP_011508804.2:p.Gly485=
XM_011510503.2:c.1359C>G (EDAR)	XP_011508805.2:p.Gly453=
XM_017004623.2:c.8370+123993G>C (RANBP2)	XP_016860112.1:n.8370+123993G>C
NM_022336.4:c.1215C>G (EDAR) MANE Select	NP_071731.1:p.Gly405=