Canonical Allele Identifier: CA2092892

Gene: ATIC

Linked Data

• dbSNP Id: rs78089903
• ExAC: 2:216189927 C / T
• gnomAD v2: 2-216189927-C-T
• gnomAD v3: 2-215325204-C-T
• gnomAD v4: 2-215325204-C-T
• MyVariant Identifiers: chr2:g.216189927C>T (hg19) ; chr2:g.215325204C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215325204C>T , CM000664.2:g.215325204C>T	GRCh38
NC_000002.11:g.216189927C>T , CM000664.1:g.216189927C>T	GRCh37
NC_000002.10:g.215898172C>T	NCBI36
NG_013002.1:g.18249C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000236959.14:c.291-37C>T MANE Select	ENSP00000236959.9:n.291-37C>T
ENST00000236959.13:c.291-37C>T	ENSP00000236959.9:n.291-37C>T
ENST00000413174.1:c.114-37C>T	ENSP00000402393.1:n.114-37C>T
ENST00000427397.5:c.*341-37C>T	ENSP00000394317.1:n.*341-37C>T
ENST00000435675.5:c.288-37C>T	ENSP00000415935.1:n.288-37C>T
ENST00000443953.5:c.*388-37C>T	ENSP00000406792.1:n.*388-37C>T
ENST00000444305.5:c.224-37C>T	ENSP00000388675.1:n.224-37C>T
ENST00000488712.5:n.466C>T
NM_004044.6:c.291-37C>T	NP_004035.2:n.291-37C>T
XM_017004187.2:c.291-37C>T	XP_016859676.1:n.291-37C>T
XM_024452919.1:c.114-37C>T	XP_024308687.1:n.114-37C>T
NM_004044.7:c.291-37C>T MANE Select	NP_004035.2:n.291-37C>T