Canonical Allele Identifier: CA428203911

Gene: EDAR RANBP2

Linked Data

• COSMIC: COSM3364205 ; COSM3364206
• MyVariant Identifiers: chr2:g.109513432G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108896976G>T , CM000664.2:g.108896976G>T	GRCh38
NC_000002.11:g.109513432G>T , CM000664.1:g.109513432G>T	GRCh37
NC_000002.10:g.108879864G>T	NCBI36
NG_008257.1:g.97397C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.1278C>A (EDAR) MANE Select	ENSP00000258443.2:p.Ser426=
ENST00000258443.6:c.1278C>A (EDAR)	ENSP00000258443.2:p.Ser426=
ENST00000376651.1:c.1374C>A (EDAR)	ENSP00000365839.1:p.Ser458=
ENST00000409271.5:c.1374C>A (EDAR)	ENSP00000386371.1:p.Ser458=
NM_022336.3:c.1278C>A (EDAR)	NP_071731.1:p.Ser426=
XM_006712204.1:c.1374C>A (EDAR)	XP_006712267.1:p.Ser458=
XM_011510502.1:c.1425C>A (EDAR)	XP_011508804.1:p.Ser475=
XM_011510503.1:c.1329C>A (EDAR)	XP_011508805.1:p.Ser443=
XM_011510504.1:c.705C>A (EDAR)	XP_011508806.1:p.Ser235=
XM_011510502.2:c.1518C>A (EDAR)	XP_011508804.2:p.Ser506=
XM_011510503.2:c.1422C>A (EDAR)	XP_011508805.2:p.Ser474=
XM_017004623.2:c.8370+123930G>T (RANBP2)	XP_016860112.1:n.8370+123930G>T
NM_022336.4:c.1278C>A (EDAR) MANE Select	NP_071731.1:p.Ser426=