Canonical Allele Identifier: CA348050716

Gene: EDAR RANBP2

Linked Data

• MyVariant Identifiers: chr2:g.109524324A>G (hg19) ; chr2:g.108907868A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108907868A>G , CM000664.2:g.108907868A>G	GRCh38
NC_000002.11:g.109524324A>G , CM000664.1:g.109524324A>G	GRCh37
NC_000002.10:g.108890756A>G	NCBI36
NG_008257.1:g.86505T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000258443.7:c.955T>C (EDAR) MANE Select	ENSP00000258443.2:p.Ser319Pro
ENST00000258443.6:c.955T>C (EDAR)	ENSP00000258443.2:p.Ser319Pro
ENST00000376651.1:c.1051T>C (EDAR)	ENSP00000365839.1:p.Ser351Pro
ENST00000409271.5:c.1051T>C (EDAR)	ENSP00000386371.1:p.Ser351Pro
NM_022336.3:c.955T>C (EDAR)	NP_071731.1:p.Ser319Pro
XM_006712204.1:c.1051T>C (EDAR)	XP_006712267.1:p.Ser351Pro
XM_011510502.1:c.1102T>C (EDAR)	XP_011508804.1:p.Ser368Pro
XM_011510503.1:c.1006T>C (EDAR)	XP_011508805.1:p.Ser336Pro
XM_011510504.1:c.382T>C (EDAR)	XP_011508806.1:p.Ser128Pro
XM_011510502.2:c.1195T>C (EDAR)	XP_011508804.2:p.Ser399Pro
XM_011510503.2:c.1099T>C (EDAR)	XP_011508805.2:p.Ser367Pro
XM_017004623.2:c.8370+134822A>G (RANBP2)	XP_016860112.1:n.8370+134822A>G
NM_022336.4:c.955T>C (EDAR) MANE Select	NP_071731.1:p.Ser319Pro