Canonical Allele Identifier: CA431152278
Gene: ATIC HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.216209576C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.215344853C>T , CM000664.2:g.215344853C>T GRCh38
NC_000002.11:g.216209576C>T , CM000664.1:g.216209576C>T GRCh37
NC_000002.10:g.215917821C>T NCBI36
NG_013002.1:g.37898C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000236959.14:c.1302C>T MANE Select ENSP00000236959.9:p.Cys434=
ENST00000236959.13:c.1302C>T ENSP00000236959.9:p.Cys434=
ENST00000426233.1:c.307C>T
ENST00000435675.5:c.1299C>T ENSP00000415935.1:p.Cys433=
ENST00000443953.5:c.*1399C>T ENSP00000406792.1:n.*1399C>T
ENST00000446622.5:n.382C>T
ENST00000459796.1:n.113C>T
ENST00000467388.1:n.214C>T
ENST00000479093.5:n.217C>T
NM_004044.6:c.1302C>T NP_004035.2:p.Cys434=
XM_017004187.2:c.1302C>T XP_016859676.1:p.Cys434=
XM_024452919.1:c.1125C>T XP_024308687.1:p.Cys375=
NM_004044.7:c.1302C>T MANE Select NP_004035.2:p.Cys434=