Canonical Allele Identifier: CA1825221

Gene: EDAR RANBP2

Linked Data

• ClinVar Variation Id: 330712
• ClinVar RCV Id: RCV000337432 ; RCV002229875 ; RCV001135565 ; RCV002521263 ; RCV003950136
• dbSNP Id: rs760731007
• ExAC: 2:109546682 G / A
• gnomAD v2: 2-109546682-G-A
• gnomAD v3: 2-108930226-G-A
• gnomAD v4: 2-108930226-G-A
• COSMIC: COSM4989673 ; COSM4989674
• MyVariant Identifiers: chr2:g.109546682G>A (hg19) ; chr2:g.108930226G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108930226G>A , CM000664.2:g.108930226G>A	GRCh38
NC_000002.11:g.109546682G>A , CM000664.1:g.109546682G>A	GRCh37
NC_000002.10:g.108913114G>A	NCBI36
NG_008257.1:g.64147C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.68C>T (EDAR) MANE Select	ENSP00000258443.2:p.Ser23Leu
ENST00000258443.6:c.68C>T (EDAR)	ENSP00000258443.2:p.Ser23Leu
ENST00000376651.1:c.68C>T (EDAR)	ENSP00000365839.1:p.Ser23Leu
ENST00000409271.5:c.68C>T (EDAR)	ENSP00000386371.1:p.Ser23Leu
NM_022336.3:c.68C>T (EDAR)	NP_071731.1:p.Ser23Leu
XM_006712204.1:c.68C>T (EDAR)	XP_006712267.1:p.Ser23Leu
XM_011510502.1:c.119C>T (EDAR)	XP_011508804.1:p.Ser40Leu
XM_011510503.1:c.119C>T (EDAR)	XP_011508805.1:p.Ser40Leu
XM_011510502.2:c.212C>T (EDAR)	XP_011508804.2:p.Ser71Leu
XM_011510503.2:c.212C>T (EDAR)	XP_011508805.2:p.Ser71Leu
XM_017004623.2:c.8370+157180G>A (RANBP2)	XP_016860112.1:n.8370+157180G>A
NM_022336.4:c.68C>T (EDAR) MANE Select	NP_071731.1:p.Ser23Leu