Canonical Allele Identifier: CA348051166

Gene: EDAR RANBP2

Linked Data

• gnomAD v4: 2-108908016-C-A
• MyVariant Identifiers: chr2:g.109524472C>A (hg19) ; chr2:g.108908016C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108908016C>A , CM000664.2:g.108908016C>A	GRCh38
NC_000002.11:g.109524472C>A , CM000664.1:g.109524472C>A	GRCh37
NC_000002.10:g.108890904C>A	NCBI36
NG_008257.1:g.86357G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.807G>T (EDAR) MANE Select	ENSP00000258443.2:p.Glu269Asp
ENST00000258443.6:c.807G>T (EDAR)	ENSP00000258443.2:p.Glu269Asp
ENST00000376651.1:c.903G>T (EDAR)	ENSP00000365839.1:p.Glu301Asp
ENST00000409271.5:c.903G>T (EDAR)	ENSP00000386371.1:p.Glu301Asp
NM_022336.3:c.807G>T (EDAR)	NP_071731.1:p.Glu269Asp
XM_006712204.1:c.903G>T (EDAR)	XP_006712267.1:p.Glu301Asp
XM_011510502.1:c.954G>T (EDAR)	XP_011508804.1:p.Glu318Asp
XM_011510503.1:c.858G>T (EDAR)	XP_011508805.1:p.Glu286Asp
XM_011510504.1:c.234G>T (EDAR)	XP_011508806.1:p.Glu78Asp
XM_011510502.2:c.1047G>T (EDAR)	XP_011508804.2:p.Glu349Asp
XM_011510503.2:c.951G>T (EDAR)	XP_011508805.2:p.Glu317Asp
XM_017004623.2:c.8370+134970C>A (RANBP2)	XP_016860112.1:n.8370+134970C>A
NM_022336.4:c.807G>T (EDAR) MANE Select	NP_071731.1:p.Glu269Asp