Canonical Allele Identifier: CA348047822

Gene: EDAR RANBP2

Linked Data

• MyVariant Identifiers: chr2:g.109513468T>A (hg19) ; chr2:g.108897012T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897012T>A , CM000664.2:g.108897012T>A	GRCh38
NC_000002.11:g.109513468T>A , CM000664.1:g.109513468T>A	GRCh37
NC_000002.10:g.108879900T>A	NCBI36
NG_008257.1:g.97361A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000258443.7:c.1242A>T (EDAR) MANE Select	ENSP00000258443.2:p.Lys414Asn
ENST00000258443.6:c.1242A>T (EDAR)	ENSP00000258443.2:p.Lys414Asn
ENST00000376651.1:c.1338A>T (EDAR)	ENSP00000365839.1:p.Lys446Asn
ENST00000409271.5:c.1338A>T (EDAR)	ENSP00000386371.1:p.Lys446Asn
NM_022336.3:c.1242A>T (EDAR)	NP_071731.1:p.Lys414Asn
XM_006712204.1:c.1338A>T (EDAR)	XP_006712267.1:p.Lys446Asn
XM_011510502.1:c.1389A>T (EDAR)	XP_011508804.1:p.Lys463Asn
XM_011510503.1:c.1293A>T (EDAR)	XP_011508805.1:p.Lys431Asn
XM_011510504.1:c.669A>T (EDAR)	XP_011508806.1:p.Lys223Asn
XM_011510502.2:c.1482A>T (EDAR)	XP_011508804.2:p.Lys494Asn
XM_011510503.2:c.1386A>T (EDAR)	XP_011508805.2:p.Lys462Asn
XM_017004623.2:c.8370+123966T>A (RANBP2)	XP_016860112.1:n.8370+123966T>A
NM_022336.4:c.1242A>T (EDAR) MANE Select	NP_071731.1:p.Lys414Asn