Canonical Allele Identifier: CA348048120

Gene: EDAR RANBP2

Linked Data

• ClinVar Variation Id: 2012787
• ClinVar RCV Id: RCV002843369
• MyVariant Identifiers: chr2:g.109513562A>G (hg19) ; chr2:g.108897106A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897106A>G , CM000664.2:g.108897106A>G	GRCh38
NC_000002.11:g.109513562A>G , CM000664.1:g.109513562A>G	GRCh37
NC_000002.10:g.108879994A>G	NCBI36
NG_008257.1:g.97267T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.1148T>C (EDAR) MANE Select	ENSP00000258443.2:p.Leu383Pro
ENST00000258443.6:c.1148T>C (EDAR)	ENSP00000258443.2:p.Leu383Pro
ENST00000376651.1:c.1244T>C (EDAR)	ENSP00000365839.1:p.Leu415Pro
ENST00000409271.5:c.1244T>C (EDAR)	ENSP00000386371.1:p.Leu415Pro
NM_022336.3:c.1148T>C (EDAR)	NP_071731.1:p.Leu383Pro
XM_006712204.1:c.1244T>C (EDAR)	XP_006712267.1:p.Leu415Pro
XM_011510502.1:c.1295T>C (EDAR)	XP_011508804.1:p.Leu432Pro
XM_011510503.1:c.1199T>C (EDAR)	XP_011508805.1:p.Leu400Pro
XM_011510504.1:c.575T>C (EDAR)	XP_011508806.1:p.Leu192Pro
XM_011510502.2:c.1388T>C (EDAR)	XP_011508804.2:p.Leu463Pro
XM_011510503.2:c.1292T>C (EDAR)	XP_011508805.2:p.Leu431Pro
XM_017004623.2:c.8370+124060A>G (RANBP2)	XP_016860112.1:n.8370+124060A>G
NM_022336.4:c.1148T>C (EDAR) MANE Select	NP_071731.1:p.Leu383Pro