Canonical Allele Identifier: CA348048184

Gene: EDAR RANBP2

Linked Data

• MyVariant Identifiers: chr2:g.109513592G>T (hg19) ; chr2:g.108897136G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897136G>T , CM000664.2:g.108897136G>T	GRCh38
NC_000002.11:g.109513592G>T , CM000664.1:g.109513592G>T	GRCh37
NC_000002.10:g.108880024G>T	NCBI36
NG_008257.1:g.97237C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000258443.7:c.1118C>A (EDAR) MANE Select	ENSP00000258443.2:p.Thr373Lys
ENST00000258443.6:c.1118C>A (EDAR)	ENSP00000258443.2:p.Thr373Lys
ENST00000376651.1:c.1214C>A (EDAR)	ENSP00000365839.1:p.Thr405Lys
ENST00000409271.5:c.1214C>A (EDAR)	ENSP00000386371.1:p.Thr405Lys
NM_022336.3:c.1118C>A (EDAR)	NP_071731.1:p.Thr373Lys
XM_006712204.1:c.1214C>A (EDAR)	XP_006712267.1:p.Thr405Lys
XM_011510502.1:c.1265C>A (EDAR)	XP_011508804.1:p.Thr422Lys
XM_011510503.1:c.1169C>A (EDAR)	XP_011508805.1:p.Thr390Lys
XM_011510504.1:c.545C>A (EDAR)	XP_011508806.1:p.Thr182Lys
XM_011510502.2:c.1358C>A (EDAR)	XP_011508804.2:p.Thr453Lys
XM_011510503.2:c.1262C>A (EDAR)	XP_011508805.2:p.Thr421Lys
XM_017004623.2:c.8370+124090G>T (RANBP2)	XP_016860112.1:n.8370+124090G>T
NM_022336.4:c.1118C>A (EDAR) MANE Select	NP_071731.1:p.Thr373Lys