Canonical Allele Identifier: CA348050993

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs1295052634
• gnomAD v2: 2-109524395-T-C
• gnomAD v4: 2-108907939-T-C
• MyVariant Identifiers: chr2:g.109524395T>C (hg19) ; chr2:g.108907939T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108907939T>C , CM000664.2:g.108907939T>C	GRCh38
NC_000002.11:g.109524395T>C , CM000664.1:g.109524395T>C	GRCh37
NC_000002.10:g.108890827T>C	NCBI36
NG_008257.1:g.86434A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.884A>G (EDAR) MANE Select	ENSP00000258443.2:p.Gln295Arg
ENST00000258443.6:c.884A>G (EDAR)	ENSP00000258443.2:p.Gln295Arg
ENST00000376651.1:c.980A>G (EDAR)	ENSP00000365839.1:p.Gln327Arg
ENST00000409271.5:c.980A>G (EDAR)	ENSP00000386371.1:p.Gln327Arg
NM_022336.3:c.884A>G (EDAR)	NP_071731.1:p.Gln295Arg
XM_006712204.1:c.980A>G (EDAR)	XP_006712267.1:p.Gln327Arg
XM_011510502.1:c.1031A>G (EDAR)	XP_011508804.1:p.Gln344Arg
XM_011510503.1:c.935A>G (EDAR)	XP_011508805.1:p.Gln312Arg
XM_011510504.1:c.311A>G (EDAR)	XP_011508806.1:p.Gln104Arg
XM_011510502.2:c.1124A>G (EDAR)	XP_011508804.2:p.Gln375Arg
XM_011510503.2:c.1028A>G (EDAR)	XP_011508805.2:p.Gln343Arg
XM_017004623.2:c.8370+134893T>C (RANBP2)	XP_016860112.1:n.8370+134893T>C
NM_022336.4:c.884A>G (EDAR) MANE Select	NP_071731.1:p.Gln295Arg