Canonical Allele Identifier: CA2390646

Gene: IMPDH2

Linked Data

• dbSNP Id: rs200772308
• ExAC: 3:49064372 T / C
• gnomAD v2: 3-49064372-T-C
• gnomAD v3: 3-49026939-T-C
• gnomAD v4: 3-49026939-T-C
• MyVariant Identifiers: chr3:g.49064372T>C (hg19) ; chr3:g.49026939T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026939T>C , CM000665.2:g.49026939T>C	GRCh38
NC_000003.11:g.49064372T>C , CM000665.1:g.49064372T>C	GRCh37
NC_000003.10:g.49039376T>C	NCBI36
NG_012091.1:g.7504A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2659+21A>G	ENSP00000515567.1:n.2659+21A>G
ENST00000703937.1:c.*1720+21A>G	ENSP00000515568.1:n.*1720+21A>G
ENST00000326739.9:c.619+21A>G MANE Select	ENSP00000321584.4:n.619+21A>G
ENST00000429182.6:c.619+21A>G	ENSP00000393525.2:n.619+21A>G
ENST00000442157.2:c.544+21A>G	ENSP00000403502.2:n.544+21A>G
ENST00000462980.2:n.1134+21A>G
ENST00000472328.2:n.685+21A>G
ENST00000491610.2:n.527A>G
ENST00000676607.1:n.915+21A>G
ENST00000676627.1:n.1349+21A>G
ENST00000676708.1:n.1847A>G
ENST00000676864.1:n.1716A>G
ENST00000677010.1:c.655+21A>G	ENSP00000503089.1:n.655+21A>G
ENST00000677108.1:n.2473A>G
ENST00000677168.1:n.1091+21A>G
ENST00000677185.1:n.1130A>G
ENST00000677205.1:n.1351A>G
ENST00000677344.1:n.1841A>G
ENST00000677480.1:c.*296+21A>G	ENSP00000504378.1:n.*296+21A>G
ENST00000677519.1:n.1329+21A>G
ENST00000677593.1:n.1123A>G
ENST00000677740.1:n.2072A>G
ENST00000677991.1:n.1792+21A>G
ENST00000678001.1:n.1112+21A>G
ENST00000678085.1:n.1123A>G
ENST00000678177.1:n.2416A>G
ENST00000678603.1:n.1697+21A>G
ENST00000678724.1:c.544+21A>G	ENSP00000503874.1:n.544+21A>G
ENST00000678920.1:n.777+21A>G
ENST00000679019.1:n.1337A>G
ENST00000679117.1:c.*434+21A>G	ENSP00000503240.1:n.*434+21A>G
ENST00000679339.1:n.1408A>G
ENST00000326739.8:c.619+21A>G	ENSP00000321584.4:n.619+21A>G
ENST00000429182.5:c.413+21A>G
ENST00000442157.1:c.544+21A>G	ENSP00000403502.1:n.544+21A>G
ENST00000462980.1:n.521+21A>G
ENST00000491610.1:n.527A>G
NM_000884.2:c.619+21A>G	NP_000875.2:n.619+21A>G
XM_006713128.2:c.829+21A>G	XP_006713191.1:n.829+21A>G
XM_006713128.3:c.829+21A>G	XP_006713191.1:n.829+21A>G
XM_017006349.1:c.754+21A>G	XP_016861838.1:n.754+21A>G
XM_017006350.1:c.754+21A>G	XP_016861839.1:n.754+21A>G
NM_000884.3:c.619+21A>G MANE Select	NP_000875.2:n.619+21A>G