Canonical Allele Identifier: CA348051019

Gene: EDAR RANBP2

Linked Data

• MyVariant Identifiers: chr2:g.109524407G>A (hg19) ; chr2:g.108907951G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108907951G>A , CM000664.2:g.108907951G>A	GRCh38
NC_000002.11:g.109524407G>A , CM000664.1:g.109524407G>A	GRCh37
NC_000002.10:g.108890839G>A	NCBI36
NG_008257.1:g.86422C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.872C>T (EDAR) MANE Select	ENSP00000258443.2:p.Ala291Val
ENST00000258443.6:c.872C>T (EDAR)	ENSP00000258443.2:p.Ala291Val
ENST00000376651.1:c.968C>T (EDAR)	ENSP00000365839.1:p.Ala323Val
ENST00000409271.5:c.968C>T (EDAR)	ENSP00000386371.1:p.Ala323Val
NM_022336.3:c.872C>T (EDAR)	NP_071731.1:p.Ala291Val
XM_006712204.1:c.968C>T (EDAR)	XP_006712267.1:p.Ala323Val
XM_011510502.1:c.1019C>T (EDAR)	XP_011508804.1:p.Ala340Val
XM_011510503.1:c.923C>T (EDAR)	XP_011508805.1:p.Ala308Val
XM_011510504.1:c.299C>T (EDAR)	XP_011508806.1:p.Ala100Val
XM_011510502.2:c.1112C>T (EDAR)	XP_011508804.2:p.Ala371Val
XM_011510503.2:c.1016C>T (EDAR)	XP_011508805.2:p.Ala339Val
XM_017004623.2:c.8370+134905G>A (RANBP2)	XP_016860112.1:n.8370+134905G>A
NM_022336.4:c.872C>T (EDAR) MANE Select	NP_071731.1:p.Ala291Val