Canonical Allele Identifier: CA117808

Gene: EDAR RANBP2

Linked Data

• ClinVar Variation Id: 5852
• ClinVar RCV Id: RCV000006210 ; RCV000255664 ; RCV000532015 ; RCV001261883 ; RCV003505080
• dbSNP Id: rs121908452
• gnomAD v4: 2-108897182-G-A
• COSMIC: COSM5524878 ; COSM5524879
• MyVariant Identifiers: chr2:g.109513638G>A (hg19) ; chr2:g.108897182G>A (hg38)
• PubMed: PMID:10431241

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897182G>A , CM000664.2:g.108897182G>A	GRCh38
NC_000002.11:g.109513638G>A , CM000664.1:g.109513638G>A	GRCh37
NC_000002.10:g.108880070G>A	NCBI36
NG_008257.1:g.97191C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.1072C>T (EDAR) MANE Select	ENSP00000258443.2:p.Arg358Ter
ENST00000258443.6:c.1072C>T (EDAR)	ENSP00000258443.2:p.Arg358Ter
ENST00000376651.1:c.1168C>T (EDAR)	ENSP00000365839.1:p.Arg390Ter
ENST00000409271.5:c.1168C>T (EDAR)	ENSP00000386371.1:p.Arg390Ter
NM_022336.3:c.1072C>T (EDAR)	NP_071731.1:p.Arg358Ter
XM_006712204.1:c.1168C>T (EDAR)	XP_006712267.1:p.Arg390Ter
XM_011510502.1:c.1219C>T (EDAR)	XP_011508804.1:p.Arg407Ter
XM_011510503.1:c.1123C>T (EDAR)	XP_011508805.1:p.Arg375Ter
XM_011510504.1:c.499C>T (EDAR)	XP_011508806.1:p.Arg167Ter
XM_011510502.2:c.1312C>T (EDAR)	XP_011508804.2:p.Arg438Ter
XM_011510503.2:c.1216C>T (EDAR)	XP_011508805.2:p.Arg406Ter
XM_017004623.2:c.8370+124136G>A (RANBP2)	XP_016860112.1:n.8370+124136G>A
NM_022336.4:c.1072C>T (EDAR) MANE Select	NP_071731.1:p.Arg358Ter