Canonical Allele Identifier: CA348115923

Gene: EDAR RANBP2

Linked Data

• gnomAD v4: 2-108929378-G-T
• MyVariant Identifiers: chr2:g.109545834G>T (hg19) ; chr2:g.108929378G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108929378G>T , CM000664.2:g.108929378G>T	GRCh38
NC_000002.11:g.109545834G>T , CM000664.1:g.109545834G>T	GRCh37
NC_000002.10:g.108912266G>T	NCBI36
NG_008257.1:g.64995C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.176C>A (EDAR) MANE Select	ENSP00000258443.2:p.Ser59Tyr
ENST00000258443.6:c.176C>A (EDAR)	ENSP00000258443.2:p.Ser59Tyr
ENST00000376651.1:c.176C>A (EDAR)	ENSP00000365839.1:p.Ser59Tyr
ENST00000409271.5:c.176C>A (EDAR)	ENSP00000386371.1:p.Ser59Tyr
NM_022336.3:c.176C>A (EDAR)	NP_071731.1:p.Ser59Tyr
XM_006712204.1:c.176C>A (EDAR)	XP_006712267.1:p.Ser59Tyr
XM_011510502.1:c.227C>A (EDAR)	XP_011508804.1:p.Ser76Tyr
XM_011510503.1:c.227C>A (EDAR)	XP_011508805.1:p.Ser76Tyr
XM_011510502.2:c.320C>A (EDAR)	XP_011508804.2:p.Ser107Tyr
XM_011510503.2:c.320C>A (EDAR)	XP_011508805.2:p.Ser107Tyr
XM_017004623.2:c.8370+156332G>T (RANBP2)	XP_016860112.1:n.8370+156332G>T
NM_022336.4:c.176C>A (EDAR) MANE Select	NP_071731.1:p.Ser59Tyr