Canonical Allele Identifier: CA352740060

Gene: IMPDH2

Linked Data

• gnomAD v4: 3-49026737-T-A
• MyVariant Identifiers: chr3:g.49064170T>A (hg19) ; chr3:g.49026737T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026737T>A , CM000665.2:g.49026737T>A	GRCh38
NC_000003.11:g.49064170T>A , CM000665.1:g.49064170T>A	GRCh37
NC_000003.10:g.49039174T>A	NCBI36
NG_012091.1:g.7706A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2809A>T	ENSP00000515567.1:p.Lys937Ter
ENST00000703937.1:c.*1870A>T	ENSP00000515568.1:n.*1870A>T
ENST00000326739.9:c.769A>T MANE Select	ENSP00000321584.4:p.Lys257Ter
ENST00000429182.6:c.769A>T	ENSP00000393525.2:p.Lys257Ter
ENST00000442157.2:c.694A>T	ENSP00000403502.2:p.Lys232Ter
ENST00000462980.2:n.1284A>T
ENST00000472328.2:n.835A>T
ENST00000491610.2:n.729A>T
ENST00000676607.1:n.1065A>T
ENST00000676627.1:n.1499A>T
ENST00000676708.1:n.2049A>T
ENST00000676864.1:n.1918A>T
ENST00000677010.1:c.805A>T	ENSP00000503089.1:p.Lys269Ter
ENST00000677108.1:n.2675A>T
ENST00000677168.1:n.1241A>T
ENST00000677185.1:n.1332A>T
ENST00000677205.1:n.1553A>T
ENST00000677344.1:n.2043A>T
ENST00000677480.1:c.*446A>T	ENSP00000504378.1:n.*446A>T
ENST00000677519.1:n.1479A>T
ENST00000677593.1:n.1325A>T
ENST00000677740.1:n.2274A>T
ENST00000677991.1:n.1942A>T
ENST00000678001.1:n.1262A>T
ENST00000678085.1:n.1325A>T
ENST00000678177.1:n.2618A>T
ENST00000678603.1:n.1847A>T
ENST00000678724.1:c.694A>T	ENSP00000503874.1:p.Lys232Ter
ENST00000678920.1:n.927A>T
ENST00000679019.1:n.1539A>T
ENST00000679117.1:c.*584A>T	ENSP00000503240.1:n.*584A>T
ENST00000679339.1:n.1610A>T
ENST00000326739.8:c.769A>T	ENSP00000321584.4:p.Lys257Ter
ENST00000429182.5:c.563A>T
ENST00000442157.1:c.694A>T	ENSP00000403502.1:p.Lys232Ter
ENST00000462980.1:n.671A>T
ENST00000491610.1:n.729A>T
NM_000884.2:c.769A>T	NP_000875.2:p.Lys257Ter
XM_006713128.2:c.979A>T	XP_006713191.1:p.Lys327Ter
XM_006713128.3:c.979A>T	XP_006713191.1:p.Lys327Ter
XM_017006349.1:c.904A>T	XP_016861838.1:p.Lys302Ter
XM_017006350.1:c.904A>T	XP_016861839.1:p.Lys302Ter
NM_000884.3:c.769A>T MANE Select	NP_000875.2:p.Lys257Ter