Canonical Allele Identifier: CA428203863

Gene: EDAR RANBP2

Linked Data

• MyVariant Identifiers: chr2:g.109513369T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108896913T>G , CM000664.2:g.108896913T>G	GRCh38
NC_000002.11:g.109513369T>G , CM000664.1:g.109513369T>G	GRCh37
NC_000002.10:g.108879801T>G	NCBI36
NG_008257.1:g.97460A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.1341A>C (EDAR) MANE Select	ENSP00000258443.2:p.Ala447=
ENST00000258443.6:c.1341A>C (EDAR)	ENSP00000258443.2:p.Ala447=
ENST00000376651.1:c.1437A>C (EDAR)	ENSP00000365839.1:p.Ala479=
ENST00000409271.5:c.1437A>C (EDAR)	ENSP00000386371.1:p.Ala479=
NM_022336.3:c.1341A>C (EDAR)	NP_071731.1:p.Ala447=
XM_006712204.1:c.1437A>C (EDAR)	XP_006712267.1:p.Ala479=
XM_011510502.1:c.1488A>C (EDAR)	XP_011508804.1:p.Ala496=
XM_011510503.1:c.1392A>C (EDAR)	XP_011508805.1:p.Ala464=
XM_011510504.1:c.768A>C (EDAR)	XP_011508806.1:p.Ala256=
XM_011510502.2:c.1581A>C (EDAR)	XP_011508804.2:p.Ala527=
XM_011510503.2:c.1485A>C (EDAR)	XP_011508805.2:p.Ala495=
XM_017004623.2:c.8370+123867T>G (RANBP2)	XP_016860112.1:n.8370+123867T>G
NM_022336.4:c.1341A>C (EDAR) MANE Select	NP_071731.1:p.Ala447=