Canonical Allele Identifier: CA348050825

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs1481636145
• gnomAD v2: 2-109524354-C-T
• gnomAD v4: 2-108907898-C-T
• MyVariant Identifiers: chr2:g.109524354C>T (hg19) ; chr2:g.108907898C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108907898C>T , CM000664.2:g.108907898C>T	GRCh38
NC_000002.11:g.109524354C>T , CM000664.1:g.109524354C>T	GRCh37
NC_000002.10:g.108890786C>T	NCBI36
NG_008257.1:g.86475G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.925G>A (EDAR) MANE Select	ENSP00000258443.2:p.Ala309Thr
ENST00000258443.6:c.925G>A (EDAR)	ENSP00000258443.2:p.Ala309Thr
ENST00000376651.1:c.1021G>A (EDAR)	ENSP00000365839.1:p.Ala341Thr
ENST00000409271.5:c.1021G>A (EDAR)	ENSP00000386371.1:p.Ala341Thr
NM_022336.3:c.925G>A (EDAR)	NP_071731.1:p.Ala309Thr
XM_006712204.1:c.1021G>A (EDAR)	XP_006712267.1:p.Ala341Thr
XM_011510502.1:c.1072G>A (EDAR)	XP_011508804.1:p.Ala358Thr
XM_011510503.1:c.976G>A (EDAR)	XP_011508805.1:p.Ala326Thr
XM_011510504.1:c.352G>A (EDAR)	XP_011508806.1:p.Ala118Thr
XM_011510502.2:c.1165G>A (EDAR)	XP_011508804.2:p.Ala389Thr
XM_011510503.2:c.1069G>A (EDAR)	XP_011508805.2:p.Ala357Thr
XM_017004623.2:c.8370+134852C>T (RANBP2)	XP_016860112.1:n.8370+134852C>T
NM_022336.4:c.925G>A (EDAR) MANE Select	NP_071731.1:p.Ala309Thr