Canonical Allele Identifier: CA348051036

Gene: EDAR RANBP2

Linked Data

• gnomAD v4: 2-108907958-C-T
• MyVariant Identifiers: chr2:g.109524414C>T (hg19) ; chr2:g.108907958C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108907958C>T , CM000664.2:g.108907958C>T	GRCh38
NC_000002.11:g.109524414C>T , CM000664.1:g.109524414C>T	GRCh37
NC_000002.10:g.108890846C>T	NCBI36
NG_008257.1:g.86415G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000258443.7:c.865G>A (EDAR) MANE Select	ENSP00000258443.2:p.Glu289Lys
ENST00000258443.6:c.865G>A (EDAR)	ENSP00000258443.2:p.Glu289Lys
ENST00000376651.1:c.961G>A (EDAR)	ENSP00000365839.1:p.Glu321Lys
ENST00000409271.5:c.961G>A (EDAR)	ENSP00000386371.1:p.Glu321Lys
NM_022336.3:c.865G>A (EDAR)	NP_071731.1:p.Glu289Lys
XM_006712204.1:c.961G>A (EDAR)	XP_006712267.1:p.Glu321Lys
XM_011510502.1:c.1012G>A (EDAR)	XP_011508804.1:p.Glu338Lys
XM_011510503.1:c.916G>A (EDAR)	XP_011508805.1:p.Glu306Lys
XM_011510504.1:c.292G>A (EDAR)	XP_011508806.1:p.Glu98Lys
XM_011510502.2:c.1105G>A (EDAR)	XP_011508804.2:p.Glu369Lys
XM_011510503.2:c.1009G>A (EDAR)	XP_011508805.2:p.Glu337Lys
XM_017004623.2:c.8370+134912C>T (RANBP2)	XP_016860112.1:n.8370+134912C>T
NM_022336.4:c.865G>A (EDAR) MANE Select	NP_071731.1:p.Glu289Lys