Canonical Allele Identifier: CA348048008

Gene: EDAR RANBP2

Linked Data

• MyVariant Identifiers: chr2:g.109513512G>T (hg19) ; chr2:g.108897056G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897056G>T , CM000664.2:g.108897056G>T	GRCh38
NC_000002.11:g.109513512G>T , CM000664.1:g.109513512G>T	GRCh37
NC_000002.10:g.108879944G>T	NCBI36
NG_008257.1:g.97317C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.1198C>A (EDAR) MANE Select	ENSP00000258443.2:p.Arg400Ser
ENST00000258443.6:c.1198C>A (EDAR)	ENSP00000258443.2:p.Arg400Ser
ENST00000376651.1:c.1294C>A (EDAR)	ENSP00000365839.1:p.Arg432Ser
ENST00000409271.5:c.1294C>A (EDAR)	ENSP00000386371.1:p.Arg432Ser
NM_022336.3:c.1198C>A (EDAR)	NP_071731.1:p.Arg400Ser
XM_006712204.1:c.1294C>A (EDAR)	XP_006712267.1:p.Arg432Ser
XM_011510502.1:c.1345C>A (EDAR)	XP_011508804.1:p.Arg449Ser
XM_011510503.1:c.1249C>A (EDAR)	XP_011508805.1:p.Arg417Ser
XM_011510504.1:c.625C>A (EDAR)	XP_011508806.1:p.Arg209Ser
XM_011510502.2:c.1438C>A (EDAR)	XP_011508804.2:p.Arg480Ser
XM_011510503.2:c.1342C>A (EDAR)	XP_011508805.2:p.Arg448Ser
XM_017004623.2:c.8370+124010G>T (RANBP2)	XP_016860112.1:n.8370+124010G>T
NM_022336.4:c.1198C>A (EDAR) MANE Select	NP_071731.1:p.Arg400Ser