Canonical Allele Identifier: CA348050804

Gene: EDAR RANBP2

Linked Data

• ClinVar Variation Id: 569147
• ClinVar RCV Id: RCV000689707
• dbSNP Id: rs1432041144
• gnomAD v2: 2-109524348-C-A
• gnomAD v3: 2-108907892-C-A
• gnomAD v4: 2-108907892-C-A
• MyVariant Identifiers: chr2:g.109524348C>A (hg19) ; chr2:g.108907892C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108907892C>A , CM000664.2:g.108907892C>A	GRCh38
NC_000002.11:g.109524348C>A , CM000664.1:g.109524348C>A	GRCh37
NC_000002.10:g.108890780C>A	NCBI36
NG_008257.1:g.86481G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.931G>T (EDAR) MANE Select	ENSP00000258443.2:p.Glu311Ter
ENST00000258443.6:c.931G>T (EDAR)	ENSP00000258443.2:p.Glu311Ter
ENST00000376651.1:c.1027G>T (EDAR)	ENSP00000365839.1:p.Glu343Ter
ENST00000409271.5:c.1027G>T (EDAR)	ENSP00000386371.1:p.Glu343Ter
NM_022336.3:c.931G>T (EDAR)	NP_071731.1:p.Glu311Ter
XM_006712204.1:c.1027G>T (EDAR)	XP_006712267.1:p.Glu343Ter
XM_011510502.1:c.1078G>T (EDAR)	XP_011508804.1:p.Glu360Ter
XM_011510503.1:c.982G>T (EDAR)	XP_011508805.1:p.Glu328Ter
XM_011510504.1:c.358G>T (EDAR)	XP_011508806.1:p.Glu120Ter
XM_011510502.2:c.1171G>T (EDAR)	XP_011508804.2:p.Glu391Ter
XM_011510503.2:c.1075G>T (EDAR)	XP_011508805.2:p.Glu359Ter
XM_017004623.2:c.8370+134846C>A (RANBP2)	XP_016860112.1:n.8370+134846C>A
NM_022336.4:c.931G>T (EDAR) MANE Select	NP_071731.1:p.Glu311Ter