Canonical Allele Identifier: CA348047429

Gene: EDAR RANBP2

Linked Data

• gnomAD v4: 2-108896915-C-T
• MyVariant Identifiers: chr2:g.109513371C>T (hg19) ; chr2:g.108896915C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108896915C>T , CM000664.2:g.108896915C>T	GRCh38
NC_000002.11:g.109513371C>T , CM000664.1:g.109513371C>T	GRCh37
NC_000002.10:g.108879803C>T	NCBI36
NG_008257.1:g.97458G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.1339G>A (EDAR) MANE Select	ENSP00000258443.2:p.Ala447Thr
ENST00000258443.6:c.1339G>A (EDAR)	ENSP00000258443.2:p.Ala447Thr
ENST00000376651.1:c.1435G>A (EDAR)	ENSP00000365839.1:p.Ala479Thr
ENST00000409271.5:c.1435G>A (EDAR)	ENSP00000386371.1:p.Ala479Thr
NM_022336.3:c.1339G>A (EDAR)	NP_071731.1:p.Ala447Thr
XM_006712204.1:c.1435G>A (EDAR)	XP_006712267.1:p.Ala479Thr
XM_011510502.1:c.1486G>A (EDAR)	XP_011508804.1:p.Ala496Thr
XM_011510503.1:c.1390G>A (EDAR)	XP_011508805.1:p.Ala464Thr
XM_011510504.1:c.766G>A (EDAR)	XP_011508806.1:p.Ala256Thr
XM_011510502.2:c.1579G>A (EDAR)	XP_011508804.2:p.Ala527Thr
XM_011510503.2:c.1483G>A (EDAR)	XP_011508805.2:p.Ala495Thr
XM_017004623.2:c.8370+123869C>T (RANBP2)	XP_016860112.1:n.8370+123869C>T
NM_022336.4:c.1339G>A (EDAR) MANE Select	NP_071731.1:p.Ala447Thr