Canonical Allele Identifier: CA348051072

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs138052931
• MyVariant Identifiers: chr2:g.109524429C>A (hg19) ; chr2:g.108907973C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108907973C>A , CM000664.2:g.108907973C>A	GRCh38
NC_000002.11:g.109524429C>A , CM000664.1:g.109524429C>A	GRCh37
NC_000002.10:g.108890861C>A	NCBI36
NG_008257.1:g.86400G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000258443.7:c.850G>T (EDAR) MANE Select	ENSP00000258443.2:p.Val284Phe
ENST00000258443.6:c.850G>T (EDAR)	ENSP00000258443.2:p.Val284Phe
ENST00000376651.1:c.946G>T (EDAR)	ENSP00000365839.1:p.Val316Phe
ENST00000409271.5:c.946G>T (EDAR)	ENSP00000386371.1:p.Val316Phe
NM_022336.3:c.850G>T (EDAR)	NP_071731.1:p.Val284Phe
XM_006712204.1:c.946G>T (EDAR)	XP_006712267.1:p.Val316Phe
XM_011510502.1:c.997G>T (EDAR)	XP_011508804.1:p.Val333Phe
XM_011510503.1:c.901G>T (EDAR)	XP_011508805.1:p.Val301Phe
XM_011510504.1:c.277G>T (EDAR)	XP_011508806.1:p.Val93Phe
XM_011510502.2:c.1090G>T (EDAR)	XP_011508804.2:p.Val364Phe
XM_011510503.2:c.994G>T (EDAR)	XP_011508805.2:p.Val332Phe
XM_017004623.2:c.8370+134927C>A (RANBP2)	XP_016860112.1:n.8370+134927C>A
NM_022336.4:c.850G>T (EDAR) MANE Select	NP_071731.1:p.Val284Phe