Canonical Allele Identifier: CA428203904

Linked Data

MyVariant Identifiers: chr2:g.109513426A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108896970A>G , CM000664.2:g.108896970A>G GRCh38
NC_000002.11:g.109513426A>G , CM000664.1:g.109513426A>G GRCh37
NC_000002.10:g.108879858A>G NCBI36
NG_008257.1:g.97403T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000258443.7:c.1284T>C (EDAR) MANE Select ENSP00000258443.2:p.Cys428=
ENST00000258443.6:c.1284T>C (EDAR) ENSP00000258443.2:p.Cys428=
ENST00000376651.1:c.1380T>C (EDAR) ENSP00000365839.1:p.Cys460=
ENST00000409271.5:c.1380T>C (EDAR) ENSP00000386371.1:p.Cys460=
NM_022336.3:c.1284T>C (EDAR) NP_071731.1:p.Cys428=
XM_006712204.1:c.1380T>C (EDAR) XP_006712267.1:p.Cys460=
XM_011510502.1:c.1431T>C (EDAR) XP_011508804.1:p.Cys477=
XM_011510503.1:c.1335T>C (EDAR) XP_011508805.1:p.Cys445=
XM_011510504.1:c.711T>C (EDAR) XP_011508806.1:p.Cys237=
XM_011510502.2:c.1524T>C (EDAR) XP_011508804.2:p.Cys508=
XM_011510503.2:c.1428T>C (EDAR) XP_011508805.2:p.Cys476=
XM_017004623.2:c.8370+123924A>G (RANBP2) XP_016860112.1:n.8370+123924A>G
NM_022336.4:c.1284T>C (EDAR) MANE Select NP_071731.1:p.Cys428=