Canonical Allele Identifier: CA428204054

Linked Data

MyVariant Identifiers: chr2:g.109513507G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108897051G>A , CM000664.2:g.108897051G>A GRCh38
NC_000002.11:g.109513507G>A , CM000664.1:g.109513507G>A GRCh37
NC_000002.10:g.108879939G>A NCBI36
NG_008257.1:g.97322C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000258443.7:c.1203C>T (EDAR) MANE Select ENSP00000258443.2:p.Ile401=
ENST00000258443.6:c.1203C>T (EDAR) ENSP00000258443.2:p.Ile401=
ENST00000376651.1:c.1299C>T (EDAR) ENSP00000365839.1:p.Ile433=
ENST00000409271.5:c.1299C>T (EDAR) ENSP00000386371.1:p.Ile433=
NM_022336.3:c.1203C>T (EDAR) NP_071731.1:p.Ile401=
XM_006712204.1:c.1299C>T (EDAR) XP_006712267.1:p.Ile433=
XM_011510502.1:c.1350C>T (EDAR) XP_011508804.1:p.Ile450=
XM_011510503.1:c.1254C>T (EDAR) XP_011508805.1:p.Ile418=
XM_011510504.1:c.630C>T (EDAR) XP_011508806.1:p.Ile210=
XM_011510502.2:c.1443C>T (EDAR) XP_011508804.2:p.Ile481=
XM_011510503.2:c.1347C>T (EDAR) XP_011508805.2:p.Ile449=
XM_017004623.2:c.8370+124005G>A (RANBP2) XP_016860112.1:n.8370+124005G>A
NM_022336.4:c.1203C>T (EDAR) MANE Select NP_071731.1:p.Ile401=