Canonical Allele Identifier: CA348047794

Gene: EDAR RANBP2

Linked Data

• MyVariant Identifiers: chr2:g.109513460T>G (hg19) ; chr2:g.108897004T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897004T>G , CM000664.2:g.108897004T>G	GRCh38
NC_000002.11:g.109513460T>G , CM000664.1:g.109513460T>G	GRCh37
NC_000002.10:g.108879892T>G	NCBI36
NG_008257.1:g.97369A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000258443.7:c.1250A>C (EDAR) MANE Select	ENSP00000258443.2:p.Gln417Pro
ENST00000258443.6:c.1250A>C (EDAR)	ENSP00000258443.2:p.Gln417Pro
ENST00000376651.1:c.1346A>C (EDAR)	ENSP00000365839.1:p.Gln449Pro
ENST00000409271.5:c.1346A>C (EDAR)	ENSP00000386371.1:p.Gln449Pro
NM_022336.3:c.1250A>C (EDAR)	NP_071731.1:p.Gln417Pro
XM_006712204.1:c.1346A>C (EDAR)	XP_006712267.1:p.Gln449Pro
XM_011510502.1:c.1397A>C (EDAR)	XP_011508804.1:p.Gln466Pro
XM_011510503.1:c.1301A>C (EDAR)	XP_011508805.1:p.Gln434Pro
XM_011510504.1:c.677A>C (EDAR)	XP_011508806.1:p.Gln226Pro
XM_011510502.2:c.1490A>C (EDAR)	XP_011508804.2:p.Gln497Pro
XM_011510503.2:c.1394A>C (EDAR)	XP_011508805.2:p.Gln465Pro
XM_017004623.2:c.8370+123958T>G (RANBP2)	XP_016860112.1:n.8370+123958T>G
NM_022336.4:c.1250A>C (EDAR) MANE Select	NP_071731.1:p.Gln417Pro