Canonical Allele Identifier: CA754961502

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs1206556250
• gnomAD v3: 2-108908159-C-G
• gnomAD v4: 2-108908159-C-G
• MyVariant Identifiers: chr2:g.109524615C>G (hg19) ; chr2:g.108908159C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108908159C>G , CM000664.2:g.108908159C>G	GRCh38
NC_000002.11:g.109524615C>G , CM000664.1:g.109524615C>G	GRCh37
NC_000002.10:g.108891047C>G	NCBI36
NG_008257.1:g.86214G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.804-140G>C (EDAR) MANE Select	ENSP00000258443.2:n.804-140G>C
ENST00000258443.6:c.804-140G>C (EDAR)	ENSP00000258443.2:n.804-140G>C
ENST00000376651.1:c.900-140G>C (EDAR)	ENSP00000365839.1:n.900-140G>C
ENST00000409271.5:c.900-140G>C (EDAR)	ENSP00000386371.1:n.900-140G>C
NM_022336.3:c.804-140G>C (EDAR)	NP_071731.1:n.804-140G>C
XM_006712204.1:c.900-140G>C (EDAR)	XP_006712267.1:n.900-140G>C
XM_011510502.1:c.951-140G>C (EDAR)	XP_011508804.1:n.951-140G>C
XM_011510503.1:c.855-140G>C (EDAR)	XP_011508805.1:n.855-140G>C
XM_011510504.1:c.231-140G>C (EDAR)	XP_011508806.1:n.231-140G>C
XM_011510502.2:c.1044-140G>C (EDAR)	XP_011508804.2:n.1044-140G>C
XM_011510503.2:c.948-140G>C (EDAR)	XP_011508805.2:n.948-140G>C
XM_017004623.2:c.8370+135113C>G (RANBP2)	XP_016860112.1:n.8370+135113C>G
NM_022336.4:c.804-140G>C (EDAR) MANE Select	NP_071731.1:n.804-140G>C