Canonical Allele Identifier: CA348048365

Gene: EDAR RANBP2

Linked Data

• MyVariant Identifiers: chr2:g.109513637C>A (hg19) ; chr2:g.108897181C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897181C>A , CM000664.2:g.108897181C>A	GRCh38
NC_000002.11:g.109513637C>A , CM000664.1:g.109513637C>A	GRCh37
NC_000002.10:g.108880069C>A	NCBI36
NG_008257.1:g.97192G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.1073G>T (EDAR) MANE Select	ENSP00000258443.2:p.Arg358Leu
ENST00000258443.6:c.1073G>T (EDAR)	ENSP00000258443.2:p.Arg358Leu
ENST00000376651.1:c.1169G>T (EDAR)	ENSP00000365839.1:p.Arg390Leu
ENST00000409271.5:c.1169G>T (EDAR)	ENSP00000386371.1:p.Arg390Leu
NM_022336.3:c.1073G>T (EDAR)	NP_071731.1:p.Arg358Leu
XM_006712204.1:c.1169G>T (EDAR)	XP_006712267.1:p.Arg390Leu
XM_011510502.1:c.1220G>T (EDAR)	XP_011508804.1:p.Arg407Leu
XM_011510503.1:c.1124G>T (EDAR)	XP_011508805.1:p.Arg375Leu
XM_011510504.1:c.500G>T (EDAR)	XP_011508806.1:p.Arg167Leu
XM_011510502.2:c.1313G>T (EDAR)	XP_011508804.2:p.Arg438Leu
XM_011510503.2:c.1217G>T (EDAR)	XP_011508805.2:p.Arg406Leu
XM_017004623.2:c.8370+124135C>A (RANBP2)	XP_016860112.1:n.8370+124135C>A
NM_022336.4:c.1073G>T (EDAR) MANE Select	NP_071731.1:p.Arg358Leu