Canonical Allele Identifier: CA348115599

Gene: EDAR RANBP2

Linked Data

• MyVariant Identifiers: chr2:g.109545684T>C (hg19) ; chr2:g.108929228T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108929228T>C , CM000664.2:g.108929228T>C	GRCh38
NC_000002.11:g.109545684T>C , CM000664.1:g.109545684T>C	GRCh37
NC_000002.10:g.108912116T>C	NCBI36
NG_008257.1:g.65145A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.326A>G (EDAR) MANE Select	ENSP00000258443.2:p.Asn109Ser
ENST00000258443.6:c.326A>G (EDAR)	ENSP00000258443.2:p.Asn109Ser
ENST00000376651.1:c.326A>G (EDAR)	ENSP00000365839.1:p.Asn109Ser
ENST00000409271.5:c.326A>G (EDAR)	ENSP00000386371.1:p.Asn109Ser
NM_022336.3:c.326A>G (EDAR)	NP_071731.1:p.Asn109Ser
XM_006712204.1:c.326A>G (EDAR)	XP_006712267.1:p.Asn109Ser
XM_011510502.1:c.377A>G (EDAR)	XP_011508804.1:p.Asn126Ser
XM_011510503.1:c.377A>G (EDAR)	XP_011508805.1:p.Asn126Ser
XM_011510502.2:c.470A>G (EDAR)	XP_011508804.2:p.Asn157Ser
XM_011510503.2:c.470A>G (EDAR)	XP_011508805.2:p.Asn157Ser
XM_017004623.2:c.8370+156182T>C (RANBP2)	XP_016860112.1:n.8370+156182T>C
NM_022336.4:c.326A>G (EDAR) MANE Select	NP_071731.1:p.Asn109Ser