Canonical Allele Identifier: CA348048039

Gene: EDAR RANBP2

Linked Data

• MyVariant Identifiers: chr2:g.109513525C>A (hg19) ; chr2:g.108897069C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897069C>A , CM000664.2:g.108897069C>A	GRCh38
NC_000002.11:g.109513525C>A , CM000664.1:g.109513525C>A	GRCh37
NC_000002.10:g.108879957C>A	NCBI36
NG_008257.1:g.97304G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.1185G>T (EDAR) MANE Select	ENSP00000258443.2:p.Met395Ile
ENST00000258443.6:c.1185G>T (EDAR)	ENSP00000258443.2:p.Met395Ile
ENST00000376651.1:c.1281G>T (EDAR)	ENSP00000365839.1:p.Met427Ile
ENST00000409271.5:c.1281G>T (EDAR)	ENSP00000386371.1:p.Met427Ile
NM_022336.3:c.1185G>T (EDAR)	NP_071731.1:p.Met395Ile
XM_006712204.1:c.1281G>T (EDAR)	XP_006712267.1:p.Met427Ile
XM_011510502.1:c.1332G>T (EDAR)	XP_011508804.1:p.Met444Ile
XM_011510503.1:c.1236G>T (EDAR)	XP_011508805.1:p.Met412Ile
XM_011510504.1:c.612G>T (EDAR)	XP_011508806.1:p.Met204Ile
XM_011510502.2:c.1425G>T (EDAR)	XP_011508804.2:p.Met475Ile
XM_011510503.2:c.1329G>T (EDAR)	XP_011508805.2:p.Met443Ile
XM_017004623.2:c.8370+124023C>A (RANBP2)	XP_016860112.1:n.8370+124023C>A
NM_022336.4:c.1185G>T (EDAR) MANE Select	NP_071731.1:p.Met395Ile