Canonical Allele Identifier: CA74018671

Gene: IMPDH2

Linked Data

• dbSNP Id: rs149047226
• gnomAD v3: 3-49026693-C-A
• gnomAD v4: 3-49026693-C-A
• MyVariant Identifiers: chr3:g.49064126C>A (hg19) ; chr3:g.49026693C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026693C>A , CM000665.2:g.49026693C>A	GRCh38
NC_000003.11:g.49064126C>A , CM000665.1:g.49064126C>A	GRCh37
NC_000003.10:g.49039130C>A	NCBI36
NG_012091.1:g.7750G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000703936.1:c.2853G>T	ENSP00000515567.1:p.Val951=
ENST00000703937.1:c.*1914G>T	ENSP00000515568.1:n.*1914G>T
ENST00000326739.9:c.813G>T MANE Select	ENSP00000321584.4:p.Val271=
ENST00000429182.6:c.813G>T	ENSP00000393525.2:p.Val271=
ENST00000442157.2:c.738G>T	ENSP00000403502.2:p.Val246=
ENST00000462980.2:n.1328G>T
ENST00000472328.2:n.879G>T
ENST00000491610.2:n.773G>T
ENST00000676607.1:n.1109G>T
ENST00000676627.1:n.1543G>T
ENST00000676708.1:n.2093G>T
ENST00000676864.1:n.1962G>T
ENST00000677010.1:c.849G>T	ENSP00000503089.1:p.Val283=
ENST00000677108.1:n.2719G>T
ENST00000677168.1:n.1285G>T
ENST00000677185.1:n.1376G>T
ENST00000677205.1:n.1597G>T
ENST00000677344.1:n.2087G>T
ENST00000677480.1:c.*490G>T	ENSP00000504378.1:n.*490G>T
ENST00000677519.1:n.1523G>T
ENST00000677593.1:n.1369G>T
ENST00000677740.1:n.2318G>T
ENST00000677991.1:n.1986G>T
ENST00000678001.1:n.1306G>T
ENST00000678085.1:n.1369G>T
ENST00000678177.1:n.2662G>T
ENST00000678603.1:n.1891G>T
ENST00000678724.1:c.738G>T	ENSP00000503874.1:p.Val246=
ENST00000678920.1:n.971G>T
ENST00000679019.1:n.1583G>T
ENST00000679117.1:c.*628G>T	ENSP00000503240.1:n.*628G>T
ENST00000679339.1:n.1654G>T
ENST00000326739.8:c.813G>T	ENSP00000321584.4:p.Val271=
ENST00000429182.5:c.607G>T
ENST00000442157.1:c.738G>T	ENSP00000403502.1:p.Val246=
ENST00000462980.1:n.715G>T
ENST00000491610.1:n.773G>T
NM_000884.2:c.813G>T	NP_000875.2:p.Val271=
XM_006713128.2:c.1023G>T	XP_006713191.1:p.Val341=
XM_006713128.3:c.1023G>T	XP_006713191.1:p.Val341=
XM_017006349.1:c.948G>T	XP_016861838.1:p.Val316=
XM_017006350.1:c.948G>T	XP_016861839.1:p.Val316=
NM_000884.3:c.813G>T MANE Select	NP_000875.2:p.Val271=