Canonical Allele Identifier: CA1824893

Gene: EDAR RANBP2

Linked Data

• ClinVar Variation Id: 2937739
• ClinVar RCV Id: RCV003794369
• dbSNP Id: rs768660721
• ExAC: 2:109524386 G / C
• gnomAD v2: 2-109524386-G-C
• gnomAD v3: 2-108907930-G-C
• gnomAD v4: 2-108907930-G-C
• MyVariant Identifiers: chr2:g.109524386G>C (hg19) ; chr2:g.108907930G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108907930G>C , CM000664.2:g.108907930G>C	GRCh38
NC_000002.11:g.109524386G>C , CM000664.1:g.109524386G>C	GRCh37
NC_000002.10:g.108890818G>C	NCBI36
NG_008257.1:g.86443C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.893C>G (EDAR) MANE Select	ENSP00000258443.2:p.Pro298Arg
ENST00000258443.6:c.893C>G (EDAR)	ENSP00000258443.2:p.Pro298Arg
ENST00000376651.1:c.989C>G (EDAR)	ENSP00000365839.1:p.Pro330Arg
ENST00000409271.5:c.989C>G (EDAR)	ENSP00000386371.1:p.Pro330Arg
NM_022336.3:c.893C>G (EDAR)	NP_071731.1:p.Pro298Arg
XM_006712204.1:c.989C>G (EDAR)	XP_006712267.1:p.Pro330Arg
XM_011510502.1:c.1040C>G (EDAR)	XP_011508804.1:p.Pro347Arg
XM_011510503.1:c.944C>G (EDAR)	XP_011508805.1:p.Pro315Arg
XM_011510504.1:c.320C>G (EDAR)	XP_011508806.1:p.Pro107Arg
XM_011510502.2:c.1133C>G (EDAR)	XP_011508804.2:p.Pro378Arg
XM_011510503.2:c.1037C>G (EDAR)	XP_011508805.2:p.Pro346Arg
XM_017004623.2:c.8370+134884G>C (RANBP2)	XP_016860112.1:n.8370+134884G>C
NM_022336.4:c.893C>G (EDAR) MANE Select	NP_071731.1:p.Pro298Arg