Canonical Allele Identifier: CA348048030

Gene: EDAR RANBP2

Linked Data

• MyVariant Identifiers: chr2:g.109513521G>T (hg19) ; chr2:g.108897065G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897065G>T , CM000664.2:g.108897065G>T	GRCh38
NC_000002.11:g.109513521G>T , CM000664.1:g.109513521G>T	GRCh37
NC_000002.10:g.108879953G>T	NCBI36
NG_008257.1:g.97308C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.1189C>A (EDAR) MANE Select	ENSP00000258443.2:p.Leu397Ile
ENST00000258443.6:c.1189C>A (EDAR)	ENSP00000258443.2:p.Leu397Ile
ENST00000376651.1:c.1285C>A (EDAR)	ENSP00000365839.1:p.Leu429Ile
ENST00000409271.5:c.1285C>A (EDAR)	ENSP00000386371.1:p.Leu429Ile
NM_022336.3:c.1189C>A (EDAR)	NP_071731.1:p.Leu397Ile
XM_006712204.1:c.1285C>A (EDAR)	XP_006712267.1:p.Leu429Ile
XM_011510502.1:c.1336C>A (EDAR)	XP_011508804.1:p.Leu446Ile
XM_011510503.1:c.1240C>A (EDAR)	XP_011508805.1:p.Leu414Ile
XM_011510504.1:c.616C>A (EDAR)	XP_011508806.1:p.Leu206Ile
XM_011510502.2:c.1429C>A (EDAR)	XP_011508804.2:p.Leu477Ile
XM_011510503.2:c.1333C>A (EDAR)	XP_011508805.2:p.Leu445Ile
XM_017004623.2:c.8370+124019G>T (RANBP2)	XP_016860112.1:n.8370+124019G>T
NM_022336.4:c.1189C>A (EDAR) MANE Select	NP_071731.1:p.Leu397Ile