Canonical Allele Identifier: CA348048125

Gene: EDAR RANBP2

Linked Data

• MyVariant Identifiers: chr2:g.109513565C>G (hg19) ; chr2:g.108897109C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897109C>G , CM000664.2:g.108897109C>G	GRCh38
NC_000002.11:g.109513565C>G , CM000664.1:g.109513565C>G	GRCh37
NC_000002.10:g.108879997C>G	NCBI36
NG_008257.1:g.97264G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.1145G>C (EDAR) MANE Select	ENSP00000258443.2:p.Gly382Ala
ENST00000258443.6:c.1145G>C (EDAR)	ENSP00000258443.2:p.Gly382Ala
ENST00000376651.1:c.1241G>C (EDAR)	ENSP00000365839.1:p.Gly414Ala
ENST00000409271.5:c.1241G>C (EDAR)	ENSP00000386371.1:p.Gly414Ala
NM_022336.3:c.1145G>C (EDAR)	NP_071731.1:p.Gly382Ala
XM_006712204.1:c.1241G>C (EDAR)	XP_006712267.1:p.Gly414Ala
XM_011510502.1:c.1292G>C (EDAR)	XP_011508804.1:p.Gly431Ala
XM_011510503.1:c.1196G>C (EDAR)	XP_011508805.1:p.Gly399Ala
XM_011510504.1:c.572G>C (EDAR)	XP_011508806.1:p.Gly191Ala
XM_011510502.2:c.1385G>C (EDAR)	XP_011508804.2:p.Gly462Ala
XM_011510503.2:c.1289G>C (EDAR)	XP_011508805.2:p.Gly430Ala
XM_017004623.2:c.8370+124063C>G (RANBP2)	XP_016860112.1:n.8370+124063C>G
NM_022336.4:c.1145G>C (EDAR) MANE Select	NP_071731.1:p.Gly382Ala