Canonical Allele Identifier: CA348050692

Gene: EDAR RANBP2

Linked Data

• MyVariant Identifiers: chr2:g.109524317C>A (hg19) ; chr2:g.108907861C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108907861C>A , CM000664.2:g.108907861C>A	GRCh38
NC_000002.11:g.109524317C>A , CM000664.1:g.109524317C>A	GRCh37
NC_000002.10:g.108890749C>A	NCBI36
NG_008257.1:g.86512G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000258443.7:c.962G>T (EDAR) MANE Select	ENSP00000258443.2:p.Gly321Val
ENST00000258443.6:c.962G>T (EDAR)	ENSP00000258443.2:p.Gly321Val
ENST00000376651.1:c.1058G>T (EDAR)	ENSP00000365839.1:p.Gly353Val
ENST00000409271.5:c.1058G>T (EDAR)	ENSP00000386371.1:p.Gly353Val
NM_022336.3:c.962G>T (EDAR)	NP_071731.1:p.Gly321Val
XM_006712204.1:c.1058G>T (EDAR)	XP_006712267.1:p.Gly353Val
XM_011510502.1:c.1109G>T (EDAR)	XP_011508804.1:p.Gly370Val
XM_011510503.1:c.1013G>T (EDAR)	XP_011508805.1:p.Gly338Val
XM_011510504.1:c.389G>T (EDAR)	XP_011508806.1:p.Gly130Val
XM_011510502.2:c.1202G>T (EDAR)	XP_011508804.2:p.Gly401Val
XM_011510503.2:c.1106G>T (EDAR)	XP_011508805.2:p.Gly369Val
XM_017004623.2:c.8370+134815C>A (RANBP2)	XP_016860112.1:n.8370+134815C>A
NM_022336.4:c.962G>T (EDAR) MANE Select	NP_071731.1:p.Gly321Val