Canonical Allele Identifier: CA348047737

Gene: EDAR RANBP2

Linked Data

• ClinVar Variation Id: 1388925
• ClinVar RCV Id: RCV001886908
• dbSNP Id: rs1388587376
• gnomAD v4: 2-108896990-C-T
• MyVariant Identifiers: chr2:g.109513446C>T (hg19) ; chr2:g.108896990C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108896990C>T , CM000664.2:g.108896990C>T	GRCh38
NC_000002.11:g.109513446C>T , CM000664.1:g.109513446C>T	GRCh37
NC_000002.10:g.108879878C>T	NCBI36
NG_008257.1:g.97383G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.1264G>A (EDAR) MANE Select	ENSP00000258443.2:p.Asp422Asn
ENST00000258443.6:c.1264G>A (EDAR)	ENSP00000258443.2:p.Asp422Asn
ENST00000376651.1:c.1360G>A (EDAR)	ENSP00000365839.1:p.Asp454Asn
ENST00000409271.5:c.1360G>A (EDAR)	ENSP00000386371.1:p.Asp454Asn
NM_022336.3:c.1264G>A (EDAR)	NP_071731.1:p.Asp422Asn
XM_006712204.1:c.1360G>A (EDAR)	XP_006712267.1:p.Asp454Asn
XM_011510502.1:c.1411G>A (EDAR)	XP_011508804.1:p.Asp471Asn
XM_011510503.1:c.1315G>A (EDAR)	XP_011508805.1:p.Asp439Asn
XM_011510504.1:c.691G>A (EDAR)	XP_011508806.1:p.Asp231Asn
XM_011510502.2:c.1504G>A (EDAR)	XP_011508804.2:p.Asp502Asn
XM_011510503.2:c.1408G>A (EDAR)	XP_011508805.2:p.Asp470Asn
XM_017004623.2:c.8370+123944C>T (RANBP2)	XP_016860112.1:n.8370+123944C>T
NM_022336.4:c.1264G>A (EDAR) MANE Select	NP_071731.1:p.Asp422Asn