Canonical Allele Identifier: CA427911910

Linked Data

MyVariant Identifiers: chr2:g.109524364C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108907908C>A , CM000664.2:g.108907908C>A GRCh38
NC_000002.11:g.109524364C>A , CM000664.1:g.109524364C>A GRCh37
NC_000002.10:g.108890796C>A NCBI36
NG_008257.1:g.86465G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000258443.7:c.915G>T (EDAR) MANE Select ENSP00000258443.2:p.Leu305=
ENST00000258443.6:c.915G>T (EDAR) ENSP00000258443.2:p.Leu305=
ENST00000376651.1:c.1011G>T (EDAR) ENSP00000365839.1:p.Leu337=
ENST00000409271.5:c.1011G>T (EDAR) ENSP00000386371.1:p.Leu337=
NM_022336.3:c.915G>T (EDAR) NP_071731.1:p.Leu305=
XM_006712204.1:c.1011G>T (EDAR) XP_006712267.1:p.Leu337=
XM_011510502.1:c.1062G>T (EDAR) XP_011508804.1:p.Leu354=
XM_011510503.1:c.966G>T (EDAR) XP_011508805.1:p.Leu322=
XM_011510504.1:c.342G>T (EDAR) XP_011508806.1:p.Leu114=
XM_011510502.2:c.1155G>T (EDAR) XP_011508804.2:p.Leu385=
XM_011510503.2:c.1059G>T (EDAR) XP_011508805.2:p.Leu353=
XM_017004623.2:c.8370+134862C>A (RANBP2) XP_016860112.1:n.8370+134862C>A
NM_022336.4:c.915G>T (EDAR) MANE Select NP_071731.1:p.Leu305=