Canonical Allele Identifier: CA2093377
Gene: ATIC HGNC NCBI
COSMIC:
COSN15322906 (not active)
MyVariant.info:
GRCh38 chr2:g.215347616T>C
GRCh37 chr2:g.216212339T>C
gnomAD v2:
2:216212339 T / C
gnomAD v3:
2:215347616 T / C
gnomAD v4:
chr2-215347616-T-C
Joint Max Group AF 0.46804756 (SAS)
Genomes Max Group AF 0.45377977 (SAS)
Exomes Max Group AF 0.46807503 (SAS)
ClinVar RCV:
RCV000211326
RCV002054365
ClinVar Variation:
225999
dbSNP:
4673993
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.215347616T>C , CM000664.2:g.215347616T>C GRCh38
NC_000002.11:g.216212339T>C , CM000664.1:g.216212339T>C GRCh37
NC_000002.10:g.215920584T>C NCBI36
NG_013002.1:g.40661T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000236959.14:c.1503+675T>C MANE Select ENSP00000236959.9:n.1503+675T>C
ENST00000236959.13:c.1503+675T>C ENSP00000236959.9:n.1503+675T>C
ENST00000426233.1:c.508+675T>C
ENST00000435675.5:c.1500+675T>C ENSP00000415935.1:n.1500+675T>C
ENST00000443953.5:c.*1600+675T>C ENSP00000406792.1:n.*1600+675T>C
ENST00000446622.5:n.584-5T>C
ENST00000479093.5:n.418+675T>C
NM_004044.6:c.1503+675T>C NP_004035.2:n.1503+675T>C
XM_017004187.2:c.1503+675T>C XP_016859676.1:n.1503+675T>C
XM_024452919.1:c.1326+675T>C XP_024308687.1:n.1326+675T>C
NM_004044.7:c.1503+675T>C MANE Select NP_004035.2:n.1503+675T>C
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