Canonical Allele Identifier: CA427910826

Linked Data

MyVariant Identifiers: chr2:g.109513618G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108897162G>A , CM000664.2:g.108897162G>A GRCh38
NC_000002.11:g.109513618G>A , CM000664.1:g.109513618G>A GRCh37
NC_000002.10:g.108880050G>A NCBI36
NG_008257.1:g.97211C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000258443.7:c.1092C>T (EDAR) MANE Select ENSP00000258443.2:p.Tyr364=
ENST00000258443.6:c.1092C>T (EDAR) ENSP00000258443.2:p.Tyr364=
ENST00000376651.1:c.1188C>T (EDAR) ENSP00000365839.1:p.Tyr396=
ENST00000409271.5:c.1188C>T (EDAR) ENSP00000386371.1:p.Tyr396=
NM_022336.3:c.1092C>T (EDAR) NP_071731.1:p.Tyr364=
XM_006712204.1:c.1188C>T (EDAR) XP_006712267.1:p.Tyr396=
XM_011510502.1:c.1239C>T (EDAR) XP_011508804.1:p.Tyr413=
XM_011510503.1:c.1143C>T (EDAR) XP_011508805.1:p.Tyr381=
XM_011510504.1:c.519C>T (EDAR) XP_011508806.1:p.Tyr173=
XM_011510502.2:c.1332C>T (EDAR) XP_011508804.2:p.Tyr444=
XM_011510503.2:c.1236C>T (EDAR) XP_011508805.2:p.Tyr412=
XM_017004623.2:c.8370+124116G>A (RANBP2) XP_016860112.1:n.8370+124116G>A
NM_022336.4:c.1092C>T (EDAR) MANE Select NP_071731.1:p.Tyr364=