Canonical Allele Identifier: CA348050969

Gene: EDAR RANBP2

Linked Data

• MyVariant Identifiers: chr2:g.109524381G>T (hg19) ; chr2:g.108907925G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108907925G>T , CM000664.2:g.108907925G>T	GRCh38
NC_000002.11:g.109524381G>T , CM000664.1:g.109524381G>T	GRCh37
NC_000002.10:g.108890813G>T	NCBI36
NG_008257.1:g.86448C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.898C>A (EDAR) MANE Select	ENSP00000258443.2:p.Leu300Met
ENST00000258443.6:c.898C>A (EDAR)	ENSP00000258443.2:p.Leu300Met
ENST00000376651.1:c.994C>A (EDAR)	ENSP00000365839.1:p.Leu332Met
ENST00000409271.5:c.994C>A (EDAR)	ENSP00000386371.1:p.Leu332Met
NM_022336.3:c.898C>A (EDAR)	NP_071731.1:p.Leu300Met
XM_006712204.1:c.994C>A (EDAR)	XP_006712267.1:p.Leu332Met
XM_011510502.1:c.1045C>A (EDAR)	XP_011508804.1:p.Leu349Met
XM_011510503.1:c.949C>A (EDAR)	XP_011508805.1:p.Leu317Met
XM_011510504.1:c.325C>A (EDAR)	XP_011508806.1:p.Leu109Met
XM_011510502.2:c.1138C>A (EDAR)	XP_011508804.2:p.Leu380Met
XM_011510503.2:c.1042C>A (EDAR)	XP_011508805.2:p.Leu348Met
XM_017004623.2:c.8370+134879G>T (RANBP2)	XP_016860112.1:n.8370+134879G>T
NM_022336.4:c.898C>A (EDAR) MANE Select	NP_071731.1:p.Leu300Met