Canonical Allele Identifier: CA348051105

Gene: EDAR RANBP2

Linked Data

• MyVariant Identifiers: chr2:g.109524447G>T (hg19) ; chr2:g.108907991G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108907991G>T , CM000664.2:g.108907991G>T	GRCh38
NC_000002.11:g.109524447G>T , CM000664.1:g.109524447G>T	GRCh37
NC_000002.10:g.108890879G>T	NCBI36
NG_008257.1:g.86382C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.832C>A (EDAR) MANE Select	ENSP00000258443.2:p.Gln278Lys
ENST00000258443.6:c.832C>A (EDAR)	ENSP00000258443.2:p.Gln278Lys
ENST00000376651.1:c.928C>A (EDAR)	ENSP00000365839.1:p.Gln310Lys
ENST00000409271.5:c.928C>A (EDAR)	ENSP00000386371.1:p.Gln310Lys
NM_022336.3:c.832C>A (EDAR)	NP_071731.1:p.Gln278Lys
XM_006712204.1:c.928C>A (EDAR)	XP_006712267.1:p.Gln310Lys
XM_011510502.1:c.979C>A (EDAR)	XP_011508804.1:p.Gln327Lys
XM_011510503.1:c.883C>A (EDAR)	XP_011508805.1:p.Gln295Lys
XM_011510504.1:c.259C>A (EDAR)	XP_011508806.1:p.Gln87Lys
XM_011510502.2:c.1072C>A (EDAR)	XP_011508804.2:p.Gln358Lys
XM_011510503.2:c.976C>A (EDAR)	XP_011508805.2:p.Gln326Lys
XM_017004623.2:c.8370+134945G>T (RANBP2)	XP_016860112.1:n.8370+134945G>T
NM_022336.4:c.832C>A (EDAR) MANE Select	NP_071731.1:p.Gln278Lys