Canonical Allele Identifier: CA348047605

Gene: EDAR RANBP2

Linked Data

• ClinVar Variation Id: 1464912
• ClinVar RCV Id: RCV001963574
• dbSNP Id: rs1696608635
• MyVariant Identifiers: chr2:g.109513417T>C (hg19) ; chr2:g.108896961T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108896961T>C , CM000664.2:g.108896961T>C	GRCh38
NC_000002.11:g.109513417T>C , CM000664.1:g.109513417T>C	GRCh37
NC_000002.10:g.108879849T>C	NCBI36
NG_008257.1:g.97412A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.1293A>G (EDAR) MANE Select	ENSP00000258443.2:p.Ile431Met
ENST00000258443.6:c.1293A>G (EDAR)	ENSP00000258443.2:p.Ile431Met
ENST00000376651.1:c.1389A>G (EDAR)	ENSP00000365839.1:p.Ile463Met
ENST00000409271.5:c.1389A>G (EDAR)	ENSP00000386371.1:p.Ile463Met
NM_022336.3:c.1293A>G (EDAR)	NP_071731.1:p.Ile431Met
XM_006712204.1:c.1389A>G (EDAR)	XP_006712267.1:p.Ile463Met
XM_011510502.1:c.1440A>G (EDAR)	XP_011508804.1:p.Ile480Met
XM_011510503.1:c.1344A>G (EDAR)	XP_011508805.1:p.Ile448Met
XM_011510504.1:c.720A>G (EDAR)	XP_011508806.1:p.Ile240Met
XM_011510502.2:c.1533A>G (EDAR)	XP_011508804.2:p.Ile511Met
XM_011510503.2:c.1437A>G (EDAR)	XP_011508805.2:p.Ile479Met
XM_017004623.2:c.8370+123915T>C (RANBP2)	XP_016860112.1:n.8370+123915T>C
NM_022336.4:c.1293A>G (EDAR) MANE Select	NP_071731.1:p.Ile431Met