Canonical Allele Identifier: CA348048187

Gene: EDAR RANBP2

Linked Data

• MyVariant Identifiers: chr2:g.109513593T>G (hg19) ; chr2:g.108897137T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897137T>G , CM000664.2:g.108897137T>G	GRCh38
NC_000002.11:g.109513593T>G , CM000664.1:g.109513593T>G	GRCh37
NC_000002.10:g.108880025T>G	NCBI36
NG_008257.1:g.97236A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000258443.7:c.1117A>C (EDAR) MANE Select	ENSP00000258443.2:p.Thr373Pro
ENST00000258443.6:c.1117A>C (EDAR)	ENSP00000258443.2:p.Thr373Pro
ENST00000376651.1:c.1213A>C (EDAR)	ENSP00000365839.1:p.Thr405Pro
ENST00000409271.5:c.1213A>C (EDAR)	ENSP00000386371.1:p.Thr405Pro
NM_022336.3:c.1117A>C (EDAR)	NP_071731.1:p.Thr373Pro
XM_006712204.1:c.1213A>C (EDAR)	XP_006712267.1:p.Thr405Pro
XM_011510502.1:c.1264A>C (EDAR)	XP_011508804.1:p.Thr422Pro
XM_011510503.1:c.1168A>C (EDAR)	XP_011508805.1:p.Thr390Pro
XM_011510504.1:c.544A>C (EDAR)	XP_011508806.1:p.Thr182Pro
XM_011510502.2:c.1357A>C (EDAR)	XP_011508804.2:p.Thr453Pro
XM_011510503.2:c.1261A>C (EDAR)	XP_011508805.2:p.Thr421Pro
XM_017004623.2:c.8370+124091T>G (RANBP2)	XP_016860112.1:n.8370+124091T>G
NM_022336.4:c.1117A>C (EDAR) MANE Select	NP_071731.1:p.Thr373Pro