Canonical Allele Identifier: CA348047570

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs1340139268
• gnomAD v2: 2-109513409-C-G
• gnomAD v4: 2-108896953-C-G
• MyVariant Identifiers: chr2:g.109513409C>G (hg19) ; chr2:g.108896953C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108896953C>G , CM000664.2:g.108896953C>G	GRCh38
NC_000002.11:g.109513409C>G , CM000664.1:g.109513409C>G	GRCh37
NC_000002.10:g.108879841C>G	NCBI36
NG_008257.1:g.97420G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000258443.7:c.1301G>C (EDAR) MANE Select	ENSP00000258443.2:p.Trp434Ser
ENST00000258443.6:c.1301G>C (EDAR)	ENSP00000258443.2:p.Trp434Ser
ENST00000376651.1:c.1397G>C (EDAR)	ENSP00000365839.1:p.Trp466Ser
ENST00000409271.5:c.1397G>C (EDAR)	ENSP00000386371.1:p.Trp466Ser
NM_022336.3:c.1301G>C (EDAR)	NP_071731.1:p.Trp434Ser
XM_006712204.1:c.1397G>C (EDAR)	XP_006712267.1:p.Trp466Ser
XM_011510502.1:c.1448G>C (EDAR)	XP_011508804.1:p.Trp483Ser
XM_011510503.1:c.1352G>C (EDAR)	XP_011508805.1:p.Trp451Ser
XM_011510504.1:c.728G>C (EDAR)	XP_011508806.1:p.Trp243Ser
XM_011510502.2:c.1541G>C (EDAR)	XP_011508804.2:p.Trp514Ser
XM_011510503.2:c.1445G>C (EDAR)	XP_011508805.2:p.Trp482Ser
XM_017004623.2:c.8370+123907C>G (RANBP2)	XP_016860112.1:n.8370+123907C>G
NM_022336.4:c.1301G>C (EDAR) MANE Select	NP_071731.1:p.Trp434Ser