Canonical Allele Identifier: CA539542401

Gene: ATIC

Linked Data

• dbSNP Id: rs1362659464
• gnomAD v2: 2-216210082-G-T
• gnomAD v3: 2-215345359-G-T
• gnomAD v4: 2-215345359-G-T
• MyVariant Identifiers: chr2:g.216210082G>T (hg19) ; chr2:g.215345359G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215345359G>T , CM000664.2:g.215345359G>T	GRCh38
NC_000002.11:g.216210082G>T , CM000664.1:g.216210082G>T	GRCh37
NC_000002.10:g.215918327G>T	NCBI36
NG_013002.1:g.38404G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000236959.14:c.1320+488G>T MANE Select	ENSP00000236959.9:n.1320+488G>T
ENST00000236959.13:c.1320+488G>T	ENSP00000236959.9:n.1320+488G>T
ENST00000426233.1:c.325+488G>T
ENST00000435675.5:c.1317+488G>T	ENSP00000415935.1:n.1317+488G>T
ENST00000443953.5:c.*1417+488G>T	ENSP00000406792.1:n.*1417+488G>T
ENST00000446622.5:n.400+488G>T
ENST00000459796.1:n.619G>T
ENST00000467388.1:n.232+488G>T
ENST00000479093.5:n.235+488G>T
NM_004044.6:c.1320+488G>T	NP_004035.2:n.1320+488G>T
XM_017004187.2:c.1320+488G>T	XP_016859676.1:n.1320+488G>T
XM_024452919.1:c.1143+488G>T	XP_024308687.1:n.1143+488G>T
NM_004044.7:c.1320+488G>T MANE Select	NP_004035.2:n.1320+488G>T