Canonical Allele Identifier: CA348048035

Gene: EDAR RANBP2

Linked Data

• MyVariant Identifiers: chr2:g.109513523T>A (hg19) ; chr2:g.108897067T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897067T>A , CM000664.2:g.108897067T>A	GRCh38
NC_000002.11:g.109513523T>A , CM000664.1:g.109513523T>A	GRCh37
NC_000002.10:g.108879955T>A	NCBI36
NG_008257.1:g.97306A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.1187A>T (EDAR) MANE Select	ENSP00000258443.2:p.Gln396Leu
ENST00000258443.6:c.1187A>T (EDAR)	ENSP00000258443.2:p.Gln396Leu
ENST00000376651.1:c.1283A>T (EDAR)	ENSP00000365839.1:p.Gln428Leu
ENST00000409271.5:c.1283A>T (EDAR)	ENSP00000386371.1:p.Gln428Leu
NM_022336.3:c.1187A>T (EDAR)	NP_071731.1:p.Gln396Leu
XM_006712204.1:c.1283A>T (EDAR)	XP_006712267.1:p.Gln428Leu
XM_011510502.1:c.1334A>T (EDAR)	XP_011508804.1:p.Gln445Leu
XM_011510503.1:c.1238A>T (EDAR)	XP_011508805.1:p.Gln413Leu
XM_011510504.1:c.614A>T (EDAR)	XP_011508806.1:p.Gln205Leu
XM_011510502.2:c.1427A>T (EDAR)	XP_011508804.2:p.Gln476Leu
XM_011510503.2:c.1331A>T (EDAR)	XP_011508805.2:p.Gln444Leu
XM_017004623.2:c.8370+124021T>A (RANBP2)	XP_016860112.1:n.8370+124021T>A
NM_022336.4:c.1187A>T (EDAR) MANE Select	NP_071731.1:p.Gln396Leu