Canonical Allele Identifier: CA1824902

Gene: EDAR RANBP2

Linked Data

• ClinVar Variation Id: 2194381
• ClinVar RCV Id: RCV002612492 ; RCV002637115
• dbSNP Id: rs138052931
• ExAC: 2:109524429 C / T
• gnomAD v2: 2-109524429-C-T
• gnomAD v3: 2-108907973-C-T
• gnomAD v4: 2-108907973-C-T
• MyVariant Identifiers: chr2:g.109524429C>T (hg19) ; chr2:g.108907973C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108907973C>T , CM000664.2:g.108907973C>T	GRCh38
NC_000002.11:g.109524429C>T , CM000664.1:g.109524429C>T	GRCh37
NC_000002.10:g.108890861C>T	NCBI36
NG_008257.1:g.86400G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.850G>A (EDAR) MANE Select	ENSP00000258443.2:p.Val284Ile
ENST00000258443.6:c.850G>A (EDAR)	ENSP00000258443.2:p.Val284Ile
ENST00000376651.1:c.946G>A (EDAR)	ENSP00000365839.1:p.Val316Ile
ENST00000409271.5:c.946G>A (EDAR)	ENSP00000386371.1:p.Val316Ile
NM_022336.3:c.850G>A (EDAR)	NP_071731.1:p.Val284Ile
XM_006712204.1:c.946G>A (EDAR)	XP_006712267.1:p.Val316Ile
XM_011510502.1:c.997G>A (EDAR)	XP_011508804.1:p.Val333Ile
XM_011510503.1:c.901G>A (EDAR)	XP_011508805.1:p.Val301Ile
XM_011510504.1:c.277G>A (EDAR)	XP_011508806.1:p.Val93Ile
XM_011510502.2:c.1090G>A (EDAR)	XP_011508804.2:p.Val364Ile
XM_011510503.2:c.994G>A (EDAR)	XP_011508805.2:p.Val332Ile
XM_017004623.2:c.8370+134927C>T (RANBP2)	XP_016860112.1:n.8370+134927C>T
NM_022336.4:c.850G>A (EDAR) MANE Select	NP_071731.1:p.Val284Ile