Canonical Allele Identifier: CA348051013

Gene: EDAR RANBP2

Linked Data

• MyVariant Identifiers: chr2:g.109524404G>T (hg19) ; chr2:g.108907948G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108907948G>T , CM000664.2:g.108907948G>T	GRCh38
NC_000002.11:g.109524404G>T , CM000664.1:g.109524404G>T	GRCh37
NC_000002.10:g.108890836G>T	NCBI36
NG_008257.1:g.86425C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.875C>A (EDAR) MANE Select	ENSP00000258443.2:p.Pro292His
ENST00000258443.6:c.875C>A (EDAR)	ENSP00000258443.2:p.Pro292His
ENST00000376651.1:c.971C>A (EDAR)	ENSP00000365839.1:p.Pro324His
ENST00000409271.5:c.971C>A (EDAR)	ENSP00000386371.1:p.Pro324His
NM_022336.3:c.875C>A (EDAR)	NP_071731.1:p.Pro292His
XM_006712204.1:c.971C>A (EDAR)	XP_006712267.1:p.Pro324His
XM_011510502.1:c.1022C>A (EDAR)	XP_011508804.1:p.Pro341His
XM_011510503.1:c.926C>A (EDAR)	XP_011508805.1:p.Pro309His
XM_011510504.1:c.302C>A (EDAR)	XP_011508806.1:p.Pro101His
XM_011510502.2:c.1115C>A (EDAR)	XP_011508804.2:p.Pro372His
XM_011510503.2:c.1019C>A (EDAR)	XP_011508805.2:p.Pro340His
XM_017004623.2:c.8370+134902G>T (RANBP2)	XP_016860112.1:n.8370+134902G>T
NM_022336.4:c.875C>A (EDAR) MANE Select	NP_071731.1:p.Pro292His