Canonical Allele Identifier: CA348047815

Gene: EDAR RANBP2

Linked Data

• MyVariant Identifiers: chr2:g.109513466A>T (hg19) ; chr2:g.108897010A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897010A>T , CM000664.2:g.108897010A>T	GRCh38
NC_000002.11:g.109513466A>T , CM000664.1:g.109513466A>T	GRCh37
NC_000002.10:g.108879898A>T	NCBI36
NG_008257.1:g.97363T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000258443.7:c.1244T>A (EDAR) MANE Select	ENSP00000258443.2:p.Leu415Gln
ENST00000258443.6:c.1244T>A (EDAR)	ENSP00000258443.2:p.Leu415Gln
ENST00000376651.1:c.1340T>A (EDAR)	ENSP00000365839.1:p.Leu447Gln
ENST00000409271.5:c.1340T>A (EDAR)	ENSP00000386371.1:p.Leu447Gln
NM_022336.3:c.1244T>A (EDAR)	NP_071731.1:p.Leu415Gln
XM_006712204.1:c.1340T>A (EDAR)	XP_006712267.1:p.Leu447Gln
XM_011510502.1:c.1391T>A (EDAR)	XP_011508804.1:p.Leu464Gln
XM_011510503.1:c.1295T>A (EDAR)	XP_011508805.1:p.Leu432Gln
XM_011510504.1:c.671T>A (EDAR)	XP_011508806.1:p.Leu224Gln
XM_011510502.2:c.1484T>A (EDAR)	XP_011508804.2:p.Leu495Gln
XM_011510503.2:c.1388T>A (EDAR)	XP_011508805.2:p.Leu463Gln
XM_017004623.2:c.8370+123964A>T (RANBP2)	XP_016860112.1:n.8370+123964A>T
NM_022336.4:c.1244T>A (EDAR) MANE Select	NP_071731.1:p.Leu415Gln