Canonical Allele Identifier: CA348047662

Gene: EDAR RANBP2

Linked Data

• ClinVar Variation Id: 1721078
• ClinVar RCV Id: RCV002300237
• MyVariant Identifiers: chr2:g.109513430A>C (hg19) ; chr2:g.108896974A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108896974A>C , CM000664.2:g.108896974A>C	GRCh38
NC_000002.11:g.109513430A>C , CM000664.1:g.109513430A>C	GRCh37
NC_000002.10:g.108879862A>C	NCBI36
NG_008257.1:g.97399T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.1280T>G (EDAR) MANE Select	ENSP00000258443.2:p.Leu427Trp
ENST00000258443.6:c.1280T>G (EDAR)	ENSP00000258443.2:p.Leu427Trp
ENST00000376651.1:c.1376T>G (EDAR)	ENSP00000365839.1:p.Leu459Trp
ENST00000409271.5:c.1376T>G (EDAR)	ENSP00000386371.1:p.Leu459Trp
NM_022336.3:c.1280T>G (EDAR)	NP_071731.1:p.Leu427Trp
XM_006712204.1:c.1376T>G (EDAR)	XP_006712267.1:p.Leu459Trp
XM_011510502.1:c.1427T>G (EDAR)	XP_011508804.1:p.Leu476Trp
XM_011510503.1:c.1331T>G (EDAR)	XP_011508805.1:p.Leu444Trp
XM_011510504.1:c.707T>G (EDAR)	XP_011508806.1:p.Leu236Trp
XM_011510502.2:c.1520T>G (EDAR)	XP_011508804.2:p.Leu507Trp
XM_011510503.2:c.1424T>G (EDAR)	XP_011508805.2:p.Leu475Trp
XM_017004623.2:c.8370+123928A>C (RANBP2)	XP_016860112.1:n.8370+123928A>C
NM_022336.4:c.1280T>G (EDAR) MANE Select	NP_071731.1:p.Leu427Trp