Canonical Allele Identifier: CA1824792

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs761459363
• ExAC: 2:109513419 T / C
• gnomAD v2: 2-109513419-T-C
• gnomAD v4: 2-108896963-T-C
• MyVariant Identifiers: chr2:g.109513419T>C (hg19) ; chr2:g.108896963T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108896963T>C , CM000664.2:g.108896963T>C	GRCh38
NC_000002.11:g.109513419T>C , CM000664.1:g.109513419T>C	GRCh37
NC_000002.10:g.108879851T>C	NCBI36
NG_008257.1:g.97410A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000258443.7:c.1291A>G (EDAR) MANE Select	ENSP00000258443.2:p.Ile431Val
ENST00000258443.6:c.1291A>G (EDAR)	ENSP00000258443.2:p.Ile431Val
ENST00000376651.1:c.1387A>G (EDAR)	ENSP00000365839.1:p.Ile463Val
ENST00000409271.5:c.1387A>G (EDAR)	ENSP00000386371.1:p.Ile463Val
NM_022336.3:c.1291A>G (EDAR)	NP_071731.1:p.Ile431Val
XM_006712204.1:c.1387A>G (EDAR)	XP_006712267.1:p.Ile463Val
XM_011510502.1:c.1438A>G (EDAR)	XP_011508804.1:p.Ile480Val
XM_011510503.1:c.1342A>G (EDAR)	XP_011508805.1:p.Ile448Val
XM_011510504.1:c.718A>G (EDAR)	XP_011508806.1:p.Ile240Val
XM_011510502.2:c.1531A>G (EDAR)	XP_011508804.2:p.Ile511Val
XM_011510503.2:c.1435A>G (EDAR)	XP_011508805.2:p.Ile479Val
XM_017004623.2:c.8370+123917T>C (RANBP2)	XP_016860112.1:n.8370+123917T>C
NM_022336.4:c.1291A>G (EDAR) MANE Select	NP_071731.1:p.Ile431Val