Canonical Allele Identifier: CA427911956

Linked Data

MyVariant Identifiers: chr2:g.109524433C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108907977C>A , CM000664.2:g.108907977C>A GRCh38
NC_000002.11:g.109524433C>A , CM000664.1:g.109524433C>A GRCh37
NC_000002.10:g.108890865C>A NCBI36
NG_008257.1:g.86396G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000258443.7:c.846G>T (EDAR) MANE Select ENSP00000258443.2:p.Arg282=
ENST00000258443.6:c.846G>T (EDAR) ENSP00000258443.2:p.Arg282=
ENST00000376651.1:c.942G>T (EDAR) ENSP00000365839.1:p.Arg314=
ENST00000409271.5:c.942G>T (EDAR) ENSP00000386371.1:p.Arg314=
NM_022336.3:c.846G>T (EDAR) NP_071731.1:p.Arg282=
XM_006712204.1:c.942G>T (EDAR) XP_006712267.1:p.Arg314=
XM_011510502.1:c.993G>T (EDAR) XP_011508804.1:p.Arg331=
XM_011510503.1:c.897G>T (EDAR) XP_011508805.1:p.Arg299=
XM_011510504.1:c.273G>T (EDAR) XP_011508806.1:p.Arg91=
XM_011510502.2:c.1086G>T (EDAR) XP_011508804.2:p.Arg362=
XM_011510503.2:c.990G>T (EDAR) XP_011508805.2:p.Arg330=
XM_017004623.2:c.8370+134931C>A (RANBP2) XP_016860112.1:n.8370+134931C>A
NM_022336.4:c.846G>T (EDAR) MANE Select NP_071731.1:p.Arg282=