Canonical Allele Identifier: CA1824897

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs772859110
• ExAC: 2:109524398 T / C
• gnomAD v3: 2-108907942-T-C
• gnomAD v4: 2-108907942-T-C
• MyVariant Identifiers: chr2:g.109524398T>C (hg19) ; chr2:g.108907942T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108907942T>C , CM000664.2:g.108907942T>C	GRCh38
NC_000002.11:g.109524398T>C , CM000664.1:g.109524398T>C	GRCh37
NC_000002.10:g.108890830T>C	NCBI36
NG_008257.1:g.86431A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.881A>G (EDAR) MANE Select	ENSP00000258443.2:p.Lys294Arg
ENST00000258443.6:c.881A>G (EDAR)	ENSP00000258443.2:p.Lys294Arg
ENST00000376651.1:c.977A>G (EDAR)	ENSP00000365839.1:p.Lys326Arg
ENST00000409271.5:c.977A>G (EDAR)	ENSP00000386371.1:p.Lys326Arg
NM_022336.3:c.881A>G (EDAR)	NP_071731.1:p.Lys294Arg
XM_006712204.1:c.977A>G (EDAR)	XP_006712267.1:p.Lys326Arg
XM_011510502.1:c.1028A>G (EDAR)	XP_011508804.1:p.Lys343Arg
XM_011510503.1:c.932A>G (EDAR)	XP_011508805.1:p.Lys311Arg
XM_011510504.1:c.308A>G (EDAR)	XP_011508806.1:p.Lys103Arg
XM_011510502.2:c.1121A>G (EDAR)	XP_011508804.2:p.Lys374Arg
XM_011510503.2:c.1025A>G (EDAR)	XP_011508805.2:p.Lys342Arg
XM_017004623.2:c.8370+134896T>C (RANBP2)	XP_016860112.1:n.8370+134896T>C
NM_022336.4:c.881A>G (EDAR) MANE Select	NP_071731.1:p.Lys294Arg