Canonical Allele Identifier: CA348048015

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs1355674866
• gnomAD v2: 2-109513515-C-G
• MyVariant Identifiers: chr2:g.109513515C>G (hg19) ; chr2:g.108897059C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897059C>G , CM000664.2:g.108897059C>G	GRCh38
NC_000002.11:g.109513515C>G , CM000664.1:g.109513515C>G	GRCh37
NC_000002.10:g.108879947C>G	NCBI36
NG_008257.1:g.97314G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.1195G>C (EDAR) MANE Select	ENSP00000258443.2:p.Asp399His
ENST00000258443.6:c.1195G>C (EDAR)	ENSP00000258443.2:p.Asp399His
ENST00000376651.1:c.1291G>C (EDAR)	ENSP00000365839.1:p.Asp431His
ENST00000409271.5:c.1291G>C (EDAR)	ENSP00000386371.1:p.Asp431His
NM_022336.3:c.1195G>C (EDAR)	NP_071731.1:p.Asp399His
XM_006712204.1:c.1291G>C (EDAR)	XP_006712267.1:p.Asp431His
XM_011510502.1:c.1342G>C (EDAR)	XP_011508804.1:p.Asp448His
XM_011510503.1:c.1246G>C (EDAR)	XP_011508805.1:p.Asp416His
XM_011510504.1:c.622G>C (EDAR)	XP_011508806.1:p.Asp208His
XM_011510502.2:c.1435G>C (EDAR)	XP_011508804.2:p.Asp479His
XM_011510503.2:c.1339G>C (EDAR)	XP_011508805.2:p.Asp447His
XM_017004623.2:c.8370+124013C>G (RANBP2)	XP_016860112.1:n.8370+124013C>G
NM_022336.4:c.1195G>C (EDAR) MANE Select	NP_071731.1:p.Asp399His