Canonical Allele Identifier: CA2580611686

Gene: EDAR RANBP2

Linked Data

• ClinVar Variation Id: 1452944
• ClinVar RCV Id: RCV002000044
• dbSNP Id: rs2105371772

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897158_108897159del , CM000664.2:g.108897158_108897159del	GRCh38
NC_000002.11:g.109513614_109513615del , CM000664.1:g.109513614_109513615del	GRCh37
NC_000002.10:g.108880046_108880047del	NCBI36
NG_008257.1:g.97216_97217del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.1097_1098del (EDAR) MANE Select	ENSP00000258443.2:p.Ser366Ter
ENST00000258443.6:c.1097_1098del (EDAR)	ENSP00000258443.2:p.Ser366Ter
ENST00000376651.1:c.1193_1194del (EDAR)	ENSP00000365839.1:p.Ser398Ter
ENST00000409271.5:c.1193_1194del (EDAR)	ENSP00000386371.1:p.Ser398Ter
NM_022336.3:c.1097_1098del (EDAR)	NP_071731.1:p.Ser366Ter
XM_006712204.1:c.1193_1194del (EDAR)	XP_006712267.1:p.Ser398Ter
XM_011510502.1:c.1244_1245del (EDAR)	XP_011508804.1:p.Ser415Ter
XM_011510503.1:c.1148_1149del (EDAR)	XP_011508805.1:p.Ser383Ter
XM_011510504.1:c.524_525del (EDAR)	XP_011508806.1:p.Ser175Ter
XM_011510502.2:c.1337_1338del (EDAR)	XP_011508804.2:p.Ser446Ter
XM_011510503.2:c.1241_1242del (EDAR)	XP_011508805.2:p.Ser414Ter
XM_017004623.2:c.8370+124112_8370+124113del (RANBP2)	XP_016860112.1:n.8370+124112_8370+124113del
NM_022336.4:c.1097_1098del (EDAR) MANE Select	NP_071731.1:p.Ser366Ter