Canonical Allele Identifier: CA427911786

Gene: EDAR RANBP2

Linked Data

• MyVariant Identifiers: chr2:g.109524334G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108907878G>C , CM000664.2:g.108907878G>C	GRCh38
NC_000002.11:g.109524334G>C , CM000664.1:g.109524334G>C	GRCh37
NC_000002.10:g.108890766G>C	NCBI36
NG_008257.1:g.86495C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000258443.7:c.945C>G (EDAR) MANE Select	ENSP00000258443.2:p.Thr315=
ENST00000258443.6:c.945C>G (EDAR)	ENSP00000258443.2:p.Thr315=
ENST00000376651.1:c.1041C>G (EDAR)	ENSP00000365839.1:p.Thr347=
ENST00000409271.5:c.1041C>G (EDAR)	ENSP00000386371.1:p.Thr347=
NM_022336.3:c.945C>G (EDAR)	NP_071731.1:p.Thr315=
XM_006712204.1:c.1041C>G (EDAR)	XP_006712267.1:p.Thr347=
XM_011510502.1:c.1092C>G (EDAR)	XP_011508804.1:p.Thr364=
XM_011510503.1:c.996C>G (EDAR)	XP_011508805.1:p.Thr332=
XM_011510504.1:c.372C>G (EDAR)	XP_011508806.1:p.Thr124=
XM_011510502.2:c.1185C>G (EDAR)	XP_011508804.2:p.Thr395=
XM_011510503.2:c.1089C>G (EDAR)	XP_011508805.2:p.Thr363=
XM_017004623.2:c.8370+134832G>C (RANBP2)	XP_016860112.1:n.8370+134832G>C
NM_022336.4:c.945C>G (EDAR) MANE Select	NP_071731.1:p.Thr315=