Canonical Allele Identifier: CA348050693

Gene: EDAR RANBP2

Linked Data

• gnomAD v4: 2-108907861-C-T
• MyVariant Identifiers: chr2:g.109524317C>T (hg19) ; chr2:g.108907861C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000258443.7:c.962G>A (EDAR) MANE Select	ENSP00000258443.2:p.Gly321Glu
ENST00000258443.6:c.962G>A (EDAR)	ENSP00000258443.2:p.Gly321Glu
ENST00000376651.1:c.1058G>A (EDAR)	ENSP00000365839.1:p.Gly353Glu
ENST00000409271.5:c.1058G>A (EDAR)	ENSP00000386371.1:p.Gly353Glu
NM_022336.3:c.962G>A (EDAR)	NP_071731.1:p.Gly321Glu
XM_006712204.1:c.1058G>A (EDAR)	XP_006712267.1:p.Gly353Glu
XM_011510502.1:c.1109G>A (EDAR)	XP_011508804.1:p.Gly370Glu
XM_011510503.1:c.1013G>A (EDAR)	XP_011508805.1:p.Gly338Glu
XM_011510504.1:c.389G>A (EDAR)	XP_011508806.1:p.Gly130Glu
XM_011510502.2:c.1202G>A (EDAR)	XP_011508804.2:p.Gly401Glu
XM_011510503.2:c.1106G>A (EDAR)	XP_011508805.2:p.Gly369Glu
XM_017004623.2:c.8370+134815C>T (RANBP2)	XP_016860112.1:n.8370+134815C>T
NM_022336.4:c.962G>A (EDAR) MANE Select	NP_071731.1:p.Gly321Glu