Canonical Allele Identifier: CA427911806

Gene: EDAR RANBP2

Linked Data

• MyVariant Identifiers: chr2:g.109524361A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108907905A>C , CM000664.2:g.108907905A>C	GRCh38
NC_000002.11:g.109524361A>C , CM000664.1:g.109524361A>C	GRCh37
NC_000002.10:g.108890793A>C	NCBI36
NG_008257.1:g.86468T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.918T>G (EDAR) MANE Select	ENSP00000258443.2:p.Val306=
ENST00000258443.6:c.918T>G (EDAR)	ENSP00000258443.2:p.Val306=
ENST00000376651.1:c.1014T>G (EDAR)	ENSP00000365839.1:p.Val338=
ENST00000409271.5:c.1014T>G (EDAR)	ENSP00000386371.1:p.Val338=
NM_022336.3:c.918T>G (EDAR)	NP_071731.1:p.Val306=
XM_006712204.1:c.1014T>G (EDAR)	XP_006712267.1:p.Val338=
XM_011510502.1:c.1065T>G (EDAR)	XP_011508804.1:p.Val355=
XM_011510503.1:c.969T>G (EDAR)	XP_011508805.1:p.Val323=
XM_011510504.1:c.345T>G (EDAR)	XP_011508806.1:p.Val115=
XM_011510502.2:c.1158T>G (EDAR)	XP_011508804.2:p.Val386=
XM_011510503.2:c.1062T>G (EDAR)	XP_011508805.2:p.Val354=
XM_017004623.2:c.8370+134859A>C (RANBP2)	XP_016860112.1:n.8370+134859A>C
NM_022336.4:c.918T>G (EDAR) MANE Select	NP_071731.1:p.Val306=