Canonical Allele Identifier: CA11264097
Gene: ATIC HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.215333248T>C
GRCh37 chr2:g.216197971T>C
gnomAD v2:
2:216197971 T / C
gnomAD v3:
2:215333248 T / C
gnomAD v4:
chr2-215333248-T-C
Joint Max Group AF 0.71924649 (EAS)
Genomes Max Group AF 0.75605053 (EAS)
Exomes Max Group AF 0.71151619 (EAS)
dbSNP:
12995526
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.215333248T>C , CM000664.2:g.215333248T>C GRCh38
NC_000002.11:g.216197971T>C , CM000664.1:g.216197971T>C GRCh37
NC_000002.10:g.215906216T>C NCBI36
NG_013002.1:g.26293T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000236959.14:c.815-102T>C MANE Select ENSP00000236959.9:n.815-102T>C
ENST00000236959.13:c.815-102T>C ENSP00000236959.9:n.815-102T>C
ENST00000427397.5:c.*708-102T>C ENSP00000394317.1:n.*708-102T>C
ENST00000435675.5:c.812-102T>C ENSP00000415935.1:n.812-102T>C
ENST00000443953.5:c.*912-102T>C ENSP00000406792.1:n.*912-102T>C
NM_004044.6:c.815-102T>C NP_004035.2:n.815-102T>C
XM_017004187.2:c.815-102T>C XP_016859676.1:n.815-102T>C
XM_024452919.1:c.638-102T>C XP_024308687.1:n.638-102T>C
NM_004044.7:c.815-102T>C MANE Select NP_004035.2:n.815-102T>C
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