Canonical Allele Identifier: CA348051060

Gene: EDAR RANBP2

Linked Data

• gnomAD v4: 2-108907968-G-C
• MyVariant Identifiers: chr2:g.109524424G>C (hg19) ; chr2:g.108907968G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108907968G>C , CM000664.2:g.108907968G>C	GRCh38
NC_000002.11:g.109524424G>C , CM000664.1:g.109524424G>C	GRCh37
NC_000002.10:g.108890856G>C	NCBI36
NG_008257.1:g.86405C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000258443.7:c.855C>G (EDAR) MANE Select	ENSP00000258443.2:p.Asp285Glu
ENST00000258443.6:c.855C>G (EDAR)	ENSP00000258443.2:p.Asp285Glu
ENST00000376651.1:c.951C>G (EDAR)	ENSP00000365839.1:p.Asp317Glu
ENST00000409271.5:c.951C>G (EDAR)	ENSP00000386371.1:p.Asp317Glu
NM_022336.3:c.855C>G (EDAR)	NP_071731.1:p.Asp285Glu
XM_006712204.1:c.951C>G (EDAR)	XP_006712267.1:p.Asp317Glu
XM_011510502.1:c.1002C>G (EDAR)	XP_011508804.1:p.Asp334Glu
XM_011510503.1:c.906C>G (EDAR)	XP_011508805.1:p.Asp302Glu
XM_011510504.1:c.282C>G (EDAR)	XP_011508806.1:p.Asp94Glu
XM_011510502.2:c.1095C>G (EDAR)	XP_011508804.2:p.Asp365Glu
XM_011510503.2:c.999C>G (EDAR)	XP_011508805.2:p.Asp333Glu
XM_017004623.2:c.8370+134922G>C (RANBP2)	XP_016860112.1:n.8370+134922G>C
NM_022336.4:c.855C>G (EDAR) MANE Select	NP_071731.1:p.Asp285Glu