Canonical Allele Identifier: CA428203944

Gene: EDAR RANBP2

Linked Data

• MyVariant Identifiers: chr2:g.109513462C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897006C>T , CM000664.2:g.108897006C>T	GRCh38
NC_000002.11:g.109513462C>T , CM000664.1:g.109513462C>T	GRCh37
NC_000002.10:g.108879894C>T	NCBI36
NG_008257.1:g.97367G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000258443.7:c.1248G>A (EDAR) MANE Select	ENSP00000258443.2:p.Val416=
ENST00000258443.6:c.1248G>A (EDAR)	ENSP00000258443.2:p.Val416=
ENST00000376651.1:c.1344G>A (EDAR)	ENSP00000365839.1:p.Val448=
ENST00000409271.5:c.1344G>A (EDAR)	ENSP00000386371.1:p.Val448=
NM_022336.3:c.1248G>A (EDAR)	NP_071731.1:p.Val416=
XM_006712204.1:c.1344G>A (EDAR)	XP_006712267.1:p.Val448=
XM_011510502.1:c.1395G>A (EDAR)	XP_011508804.1:p.Val465=
XM_011510503.1:c.1299G>A (EDAR)	XP_011508805.1:p.Val433=
XM_011510504.1:c.675G>A (EDAR)	XP_011508806.1:p.Val225=
XM_011510502.2:c.1488G>A (EDAR)	XP_011508804.2:p.Val496=
XM_011510503.2:c.1392G>A (EDAR)	XP_011508805.2:p.Val464=
XM_017004623.2:c.8370+123960C>T (RANBP2)	XP_016860112.1:n.8370+123960C>T
NM_022336.4:c.1248G>A (EDAR) MANE Select	NP_071731.1:p.Val416=