Canonical Allele Identifier: CA348048160

Gene: EDAR RANBP2

Linked Data

• MyVariant Identifiers: chr2:g.109513581G>A (hg19) ; chr2:g.108897125G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897125G>A , CM000664.2:g.108897125G>A	GRCh38
NC_000002.11:g.109513581G>A , CM000664.1:g.109513581G>A	GRCh37
NC_000002.10:g.108880013G>A	NCBI36
NG_008257.1:g.97248C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.1129C>T (EDAR) MANE Select	ENSP00000258443.2:p.Leu377Phe
ENST00000258443.6:c.1129C>T (EDAR)	ENSP00000258443.2:p.Leu377Phe
ENST00000376651.1:c.1225C>T (EDAR)	ENSP00000365839.1:p.Leu409Phe
ENST00000409271.5:c.1225C>T (EDAR)	ENSP00000386371.1:p.Leu409Phe
NM_022336.3:c.1129C>T (EDAR)	NP_071731.1:p.Leu377Phe
XM_006712204.1:c.1225C>T (EDAR)	XP_006712267.1:p.Leu409Phe
XM_011510502.1:c.1276C>T (EDAR)	XP_011508804.1:p.Leu426Phe
XM_011510503.1:c.1180C>T (EDAR)	XP_011508805.1:p.Leu394Phe
XM_011510504.1:c.556C>T (EDAR)	XP_011508806.1:p.Leu186Phe
XM_011510502.2:c.1369C>T (EDAR)	XP_011508804.2:p.Leu457Phe
XM_011510503.2:c.1273C>T (EDAR)	XP_011508805.2:p.Leu425Phe
XM_017004623.2:c.8370+124079G>A (RANBP2)	XP_016860112.1:n.8370+124079G>A
NM_022336.4:c.1129C>T (EDAR) MANE Select	NP_071731.1:p.Leu377Phe