Canonical Allele Identifier: CA352740753

Gene: IMPDH2

Linked Data

• COSMIC: COSM1210644
• MyVariant Identifiers: chr3:g.49064259A>G (hg19) ; chr3:g.49026826A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026826A>G , CM000665.2:g.49026826A>G	GRCh38
NC_000003.11:g.49064259A>G , CM000665.1:g.49064259A>G	GRCh37
NC_000003.10:g.49039263A>G	NCBI36
NG_012091.1:g.7617T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2720T>C	ENSP00000515567.1:p.Leu907Pro
ENST00000703937.1:c.*1781T>C	ENSP00000515568.1:n.*1781T>C
ENST00000326739.9:c.680T>C MANE Select	ENSP00000321584.4:p.Leu227Pro
ENST00000429182.6:c.680T>C	ENSP00000393525.2:p.Leu227Pro
ENST00000442157.2:c.605T>C	ENSP00000403502.2:p.Leu202Pro
ENST00000462980.2:n.1195T>C
ENST00000472328.2:n.746T>C
ENST00000491610.2:n.640T>C
ENST00000676607.1:n.976T>C
ENST00000676627.1:n.1410T>C
ENST00000676708.1:n.1960T>C
ENST00000676864.1:n.1829T>C
ENST00000677010.1:c.716T>C	ENSP00000503089.1:p.Leu239Pro
ENST00000677108.1:n.2586T>C
ENST00000677168.1:n.1152T>C
ENST00000677185.1:n.1243T>C
ENST00000677205.1:n.1464T>C
ENST00000677344.1:n.1954T>C
ENST00000677480.1:c.*357T>C	ENSP00000504378.1:n.*357T>C
ENST00000677519.1:n.1390T>C
ENST00000677593.1:n.1236T>C
ENST00000677740.1:n.2185T>C
ENST00000677991.1:n.1853T>C
ENST00000678001.1:n.1173T>C
ENST00000678085.1:n.1236T>C
ENST00000678177.1:n.2529T>C
ENST00000678603.1:n.1758T>C
ENST00000678724.1:c.605T>C	ENSP00000503874.1:p.Leu202Pro
ENST00000678920.1:n.838T>C
ENST00000679019.1:n.1450T>C
ENST00000679117.1:c.*495T>C	ENSP00000503240.1:n.*495T>C
ENST00000679339.1:n.1521T>C
ENST00000326739.8:c.680T>C	ENSP00000321584.4:p.Leu227Pro
ENST00000429182.5:c.474T>C
ENST00000442157.1:c.605T>C	ENSP00000403502.1:p.Leu202Pro
ENST00000462980.1:n.582T>C
ENST00000491610.1:n.640T>C
NM_000884.2:c.680T>C	NP_000875.2:p.Leu227Pro
XM_006713128.2:c.890T>C	XP_006713191.1:p.Leu297Pro
XM_006713128.3:c.890T>C	XP_006713191.1:p.Leu297Pro
XM_017006349.1:c.815T>C	XP_016861838.1:p.Leu272Pro
XM_017006350.1:c.815T>C	XP_016861839.1:p.Leu272Pro
NM_000884.3:c.680T>C MANE Select	NP_000875.2:p.Leu227Pro