Canonical Allele Identifier: CA348048181

Gene: EDAR RANBP2

Linked Data

• MyVariant Identifiers: chr2:g.109513590A>T (hg19) ; chr2:g.108897134A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897134A>T , CM000664.2:g.108897134A>T	GRCh38
NC_000002.11:g.109513590A>T , CM000664.1:g.109513590A>T	GRCh37
NC_000002.10:g.108880022A>T	NCBI36
NG_008257.1:g.97239T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.1120T>A (EDAR) MANE Select	ENSP00000258443.2:p.Trp374Arg
ENST00000258443.6:c.1120T>A (EDAR)	ENSP00000258443.2:p.Trp374Arg
ENST00000376651.1:c.1216T>A (EDAR)	ENSP00000365839.1:p.Trp406Arg
ENST00000409271.5:c.1216T>A (EDAR)	ENSP00000386371.1:p.Trp406Arg
NM_022336.3:c.1120T>A (EDAR)	NP_071731.1:p.Trp374Arg
XM_006712204.1:c.1216T>A (EDAR)	XP_006712267.1:p.Trp406Arg
XM_011510502.1:c.1267T>A (EDAR)	XP_011508804.1:p.Trp423Arg
XM_011510503.1:c.1171T>A (EDAR)	XP_011508805.1:p.Trp391Arg
XM_011510504.1:c.547T>A (EDAR)	XP_011508806.1:p.Trp183Arg
XM_011510502.2:c.1360T>A (EDAR)	XP_011508804.2:p.Trp454Arg
XM_011510503.2:c.1264T>A (EDAR)	XP_011508805.2:p.Trp422Arg
XM_017004623.2:c.8370+124088A>T (RANBP2)	XP_016860112.1:n.8370+124088A>T
NM_022336.4:c.1120T>A (EDAR) MANE Select	NP_071731.1:p.Trp374Arg