Canonical Allele Identifier: CA348048195

Gene: EDAR RANBP2

Linked Data

• COSMIC: COSM4084117 ; COSM4084118
• MyVariant Identifiers: chr2:g.109513596T>G (hg19) ; chr2:g.108897140T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897140T>G , CM000664.2:g.108897140T>G	GRCh38
NC_000002.11:g.109513596T>G , CM000664.1:g.109513596T>G	GRCh37
NC_000002.10:g.108880028T>G	NCBI36
NG_008257.1:g.97233A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000258443.7:c.1114A>C (EDAR) MANE Select	ENSP00000258443.2:p.Lys372Gln
ENST00000258443.6:c.1114A>C (EDAR)	ENSP00000258443.2:p.Lys372Gln
ENST00000376651.1:c.1210A>C (EDAR)	ENSP00000365839.1:p.Lys404Gln
ENST00000409271.5:c.1210A>C (EDAR)	ENSP00000386371.1:p.Lys404Gln
NM_022336.3:c.1114A>C (EDAR)	NP_071731.1:p.Lys372Gln
XM_006712204.1:c.1210A>C (EDAR)	XP_006712267.1:p.Lys404Gln
XM_011510502.1:c.1261A>C (EDAR)	XP_011508804.1:p.Lys421Gln
XM_011510503.1:c.1165A>C (EDAR)	XP_011508805.1:p.Lys389Gln
XM_011510504.1:c.541A>C (EDAR)	XP_011508806.1:p.Lys181Gln
XM_011510502.2:c.1354A>C (EDAR)	XP_011508804.2:p.Lys452Gln
XM_011510503.2:c.1258A>C (EDAR)	XP_011508805.2:p.Lys420Gln
XM_017004623.2:c.8370+124094T>G (RANBP2)	XP_016860112.1:n.8370+124094T>G
NM_022336.4:c.1114A>C (EDAR) MANE Select	NP_071731.1:p.Lys372Gln