Canonical Allele Identifier: CA428204067

Linked Data

MyVariant Identifiers: chr2:g.109513513G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108897057G>A , CM000664.2:g.108897057G>A GRCh38
NC_000002.11:g.109513513G>A , CM000664.1:g.109513513G>A GRCh37
NC_000002.10:g.108879945G>A NCBI36
NG_008257.1:g.97316C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000258443.7:c.1197C>T (EDAR) MANE Select ENSP00000258443.2:p.Asp399=
ENST00000258443.6:c.1197C>T (EDAR) ENSP00000258443.2:p.Asp399=
ENST00000376651.1:c.1293C>T (EDAR) ENSP00000365839.1:p.Asp431=
ENST00000409271.5:c.1293C>T (EDAR) ENSP00000386371.1:p.Asp431=
NM_022336.3:c.1197C>T (EDAR) NP_071731.1:p.Asp399=
XM_006712204.1:c.1293C>T (EDAR) XP_006712267.1:p.Asp431=
XM_011510502.1:c.1344C>T (EDAR) XP_011508804.1:p.Asp448=
XM_011510503.1:c.1248C>T (EDAR) XP_011508805.1:p.Asp416=
XM_011510504.1:c.624C>T (EDAR) XP_011508806.1:p.Asp208=
XM_011510502.2:c.1437C>T (EDAR) XP_011508804.2:p.Asp479=
XM_011510503.2:c.1341C>T (EDAR) XP_011508805.2:p.Asp447=
XM_017004623.2:c.8370+124011G>A (RANBP2) XP_016860112.1:n.8370+124011G>A
NM_022336.4:c.1197C>T (EDAR) MANE Select NP_071731.1:p.Asp399=