Canonical Allele Identifier: CA348050301

Gene: EDAR RANBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108906306A>G , CM000664.2:g.108906306A>G	GRCh38
NC_000002.11:g.109522762A>G , CM000664.1:g.109522762A>G	GRCh37
NC_000002.10:g.108889194A>G	NCBI36
NG_008257.1:g.88067T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_022336.4:c.1024+2T>C (EDAR) MANE Select	NP_071731.1:n.1024+2T>C
ENST00000258443.7:c.1024+2T>C (EDAR) MANE Select	ENSP00000258443.2:n.1024+2T>C
NM_022336.3:c.1024+2T>C (EDAR)	NP_071731.1:n.1024+2T>C
ENST00000258443.6:c.1024+2T>C (EDAR)	ENSP00000258443.2:n.1024+2T>C
ENST00000376651.1:c.1120+2T>C (EDAR)	ENSP00000365839.1:n.1120+2T>C
ENST00000409271.5:c.1120+2T>C (EDAR)	ENSP00000386371.1:n.1120+2T>C
XM_006712204.1:c.1120+2T>C (EDAR)	XP_006712267.1:n.1120+2T>C
XM_011510502.1:c.1171+2T>C (EDAR)	XP_011508804.1:n.1171+2T>C
XM_011510502.2:c.1264+2T>C (EDAR)	XP_011508804.2:n.1264+2T>C
XM_011510503.1:c.1075+2T>C (EDAR)	XP_011508805.1:n.1075+2T>C
XM_011510503.2:c.1168+2T>C (EDAR)	XP_011508805.2:n.1168+2T>C
XM_011510504.1:c.451+2T>C (EDAR)	XP_011508806.1:n.451+2T>C
XM_017004623.2:c.8370+133260A>G (RANBP2)	XP_016860112.1:n.8370+133260A>G