Canonical Allele Identifier: CA1824816

Gene: EDAR RANBP2

Linked Data

• ClinVar Variation Id: 2050192
• ClinVar RCV Id: RCV002937491
• dbSNP Id: rs149287854
• ExAC: 2:109513605 C / G
• gnomAD v2: 2-109513605-C-G
• gnomAD v3: 2-108897149-C-G
• gnomAD v4: 2-108897149-C-G
• MyVariant Identifiers: chr2:g.109513605C>G (hg19) ; chr2:g.108897149C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897149C>G , CM000664.2:g.108897149C>G	GRCh38
NC_000002.11:g.109513605C>G , CM000664.1:g.109513605C>G	GRCh37
NC_000002.10:g.108880037C>G	NCBI36
NG_008257.1:g.97224G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000258443.7:c.1105G>C (EDAR) MANE Select	ENSP00000258443.2:p.Ala369Pro
ENST00000258443.6:c.1105G>C (EDAR)	ENSP00000258443.2:p.Ala369Pro
ENST00000376651.1:c.1201G>C (EDAR)	ENSP00000365839.1:p.Ala401Pro
ENST00000409271.5:c.1201G>C (EDAR)	ENSP00000386371.1:p.Ala401Pro
NM_022336.3:c.1105G>C (EDAR)	NP_071731.1:p.Ala369Pro
XM_006712204.1:c.1201G>C (EDAR)	XP_006712267.1:p.Ala401Pro
XM_011510502.1:c.1252G>C (EDAR)	XP_011508804.1:p.Ala418Pro
XM_011510503.1:c.1156G>C (EDAR)	XP_011508805.1:p.Ala386Pro
XM_011510504.1:c.532G>C (EDAR)	XP_011508806.1:p.Ala178Pro
XM_011510502.2:c.1345G>C (EDAR)	XP_011508804.2:p.Ala449Pro
XM_011510503.2:c.1249G>C (EDAR)	XP_011508805.2:p.Ala417Pro
XM_017004623.2:c.8370+124103C>G (RANBP2)	XP_016860112.1:n.8370+124103C>G
NM_022336.4:c.1105G>C (EDAR) MANE Select	NP_071731.1:p.Ala369Pro