Canonical Allele Identifier: CA348051030

Gene: EDAR RANBP2

Linked Data

• MyVariant Identifiers: chr2:g.109524412C>G (hg19) ; chr2:g.108907956C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108907956C>G , CM000664.2:g.108907956C>G	GRCh38
NC_000002.11:g.109524412C>G , CM000664.1:g.109524412C>G	GRCh37
NC_000002.10:g.108890844C>G	NCBI36
NG_008257.1:g.86417G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000258443.7:c.867G>C (EDAR) MANE Select	ENSP00000258443.2:p.Glu289Asp
ENST00000258443.6:c.867G>C (EDAR)	ENSP00000258443.2:p.Glu289Asp
ENST00000376651.1:c.963G>C (EDAR)	ENSP00000365839.1:p.Glu321Asp
ENST00000409271.5:c.963G>C (EDAR)	ENSP00000386371.1:p.Glu321Asp
NM_022336.3:c.867G>C (EDAR)	NP_071731.1:p.Glu289Asp
XM_006712204.1:c.963G>C (EDAR)	XP_006712267.1:p.Glu321Asp
XM_011510502.1:c.1014G>C (EDAR)	XP_011508804.1:p.Glu338Asp
XM_011510503.1:c.918G>C (EDAR)	XP_011508805.1:p.Glu306Asp
XM_011510504.1:c.294G>C (EDAR)	XP_011508806.1:p.Glu98Asp
XM_011510502.2:c.1107G>C (EDAR)	XP_011508804.2:p.Glu369Asp
XM_011510503.2:c.1011G>C (EDAR)	XP_011508805.2:p.Glu337Asp
XM_017004623.2:c.8370+134910C>G (RANBP2)	XP_016860112.1:n.8370+134910C>G
NM_022336.4:c.867G>C (EDAR) MANE Select	NP_071731.1:p.Glu289Asp