Canonical Allele Identifier: CA539542407

Gene: ATIC

Linked Data

• dbSNP Id: rs1468352759
• gnomAD v2: 2-216210246-A-G
• gnomAD v3: 2-215345523-A-G
• gnomAD v4: 2-215345523-A-G
• MyVariant Identifiers: chr2:g.216210246A>G (hg19) ; chr2:g.215345523A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215345523A>G , CM000664.2:g.215345523A>G	GRCh38
NC_000002.11:g.216210246A>G , CM000664.1:g.216210246A>G	GRCh37
NC_000002.10:g.215918491A>G	NCBI36
NG_013002.1:g.38568A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000236959.14:c.1320+652A>G MANE Select	ENSP00000236959.9:n.1320+652A>G
ENST00000236959.13:c.1320+652A>G	ENSP00000236959.9:n.1320+652A>G
ENST00000426233.1:c.325+652A>G
ENST00000435675.5:c.1317+652A>G	ENSP00000415935.1:n.1317+652A>G
ENST00000443953.5:c.*1417+652A>G	ENSP00000406792.1:n.*1417+652A>G
ENST00000446622.5:n.400+652A>G
ENST00000459796.1:n.783A>G
ENST00000467388.1:n.232+652A>G
ENST00000479093.5:n.235+652A>G
NM_004044.6:c.1320+652A>G	NP_004035.2:n.1320+652A>G
XM_017004187.2:c.1320+652A>G	XP_016859676.1:n.1320+652A>G
XM_024452919.1:c.1143+652A>G	XP_024308687.1:n.1143+652A>G
NM_004044.7:c.1320+652A>G MANE Select	NP_004035.2:n.1320+652A>G