Canonical Allele Identifier: CA348051070

Gene: EDAR RANBP2

Linked Data

• MyVariant Identifiers: chr2:g.109524428A>T (hg19) ; chr2:g.108907972A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108907972A>T , CM000664.2:g.108907972A>T	GRCh38
NC_000002.11:g.109524428A>T , CM000664.1:g.109524428A>T	GRCh37
NC_000002.10:g.108890860A>T	NCBI36
NG_008257.1:g.86401T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.851T>A (EDAR) MANE Select	ENSP00000258443.2:p.Val284Asp
ENST00000258443.6:c.851T>A (EDAR)	ENSP00000258443.2:p.Val284Asp
ENST00000376651.1:c.947T>A (EDAR)	ENSP00000365839.1:p.Val316Asp
ENST00000409271.5:c.947T>A (EDAR)	ENSP00000386371.1:p.Val316Asp
NM_022336.3:c.851T>A (EDAR)	NP_071731.1:p.Val284Asp
XM_006712204.1:c.947T>A (EDAR)	XP_006712267.1:p.Val316Asp
XM_011510502.1:c.998T>A (EDAR)	XP_011508804.1:p.Val333Asp
XM_011510503.1:c.902T>A (EDAR)	XP_011508805.1:p.Val301Asp
XM_011510504.1:c.278T>A (EDAR)	XP_011508806.1:p.Val93Asp
XM_011510502.2:c.1091T>A (EDAR)	XP_011508804.2:p.Val364Asp
XM_011510503.2:c.995T>A (EDAR)	XP_011508805.2:p.Val332Asp
XM_017004623.2:c.8370+134926A>T (RANBP2)	XP_016860112.1:n.8370+134926A>T
NM_022336.4:c.851T>A (EDAR) MANE Select	NP_071731.1:p.Val284Asp