Canonical Allele Identifier: CA350457289

Gene: ATIC

Linked Data

• MyVariant Identifiers: chr2:g.216209552G>C (hg19) ; chr2:g.215344829G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215344829G>C , CM000664.2:g.215344829G>C	GRCh38
NC_000002.11:g.216209552G>C , CM000664.1:g.216209552G>C	GRCh37
NC_000002.10:g.215917797G>C	NCBI36
NG_013002.1:g.37874G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000236959.14:c.1278G>C MANE Select	ENSP00000236959.9:p.Lys426Asn
ENST00000236959.13:c.1278G>C	ENSP00000236959.9:p.Lys426Asn
ENST00000426233.1:c.283G>C
ENST00000435675.5:c.1275G>C	ENSP00000415935.1:p.Lys425Asn
ENST00000443953.5:c.*1375G>C	ENSP00000406792.1:n.*1375G>C
ENST00000446622.5:n.358G>C
ENST00000459796.1:n.89G>C
ENST00000467388.1:n.190G>C
ENST00000479093.5:n.193G>C
NM_004044.6:c.1278G>C	NP_004035.2:p.Lys426Asn
XM_017004187.2:c.1278G>C	XP_016859676.1:p.Lys426Asn
XM_024452919.1:c.1101G>C	XP_024308687.1:p.Lys367Asn
NM_004044.7:c.1278G>C MANE Select	NP_004035.2:p.Lys426Asn