Canonical Allele Identifier: CA74018899

Gene: IMPDH2

Linked Data

• dbSNP Id: rs978988972
• gnomAD v2: 3-49064390-T-TA
• gnomAD v4: 3-49026957-T-TA
• MyVariant Identifiers: chr3:g.49064390_49064391insA (hg19) ; chr3:g.49026957_49026958insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026958dup , CM000665.2:g.49026958dup	GRCh38
NC_000003.11:g.49064391dup , CM000665.1:g.49064391dup	GRCh37
NC_000003.10:g.49039395dup	NCBI36
NG_012091.1:g.7485dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2659+2dup	ENSP00000515567.1:n.2659+2dup
ENST00000703937.1:c.*1720+2dup	ENSP00000515568.1:n.*1720+2dup
ENST00000326739.9:c.619+2dup MANE Select	ENSP00000321584.4:n.619+2dup
ENST00000429182.6:c.619+2dup	ENSP00000393525.2:n.619+2dup
ENST00000442157.2:c.544+2dup	ENSP00000403502.2:n.544+2dup
ENST00000462980.2:n.1134+2dup
ENST00000472328.2:n.685+2dup
ENST00000491610.2:n.508dup
ENST00000676607.1:n.915+2dup
ENST00000676627.1:n.1349+2dup
ENST00000676708.1:n.1828dup
ENST00000676864.1:n.1697dup
ENST00000677010.1:c.655+2dup	ENSP00000503089.1:n.655+2dup
ENST00000677108.1:n.2454dup
ENST00000677168.1:n.1091+2dup
ENST00000677185.1:n.1111dup
ENST00000677205.1:n.1332dup
ENST00000677344.1:n.1822dup
ENST00000677480.1:c.*296+2dup	ENSP00000504378.1:n.*296+2dup
ENST00000677519.1:n.1329+2dup
ENST00000677593.1:n.1104dup
ENST00000677740.1:n.2053dup
ENST00000677991.1:n.1792+2dup
ENST00000678001.1:n.1112+2dup
ENST00000678085.1:n.1104dup
ENST00000678177.1:n.2397dup
ENST00000678603.1:n.1697+2dup
ENST00000678724.1:c.544+2dup	ENSP00000503874.1:n.544+2dup
ENST00000678920.1:n.777+2dup
ENST00000679019.1:n.1318dup
ENST00000679117.1:c.*434+2dup	ENSP00000503240.1:n.*434+2dup
ENST00000679339.1:n.1389dup
ENST00000326739.8:c.619+2dup	ENSP00000321584.4:n.619+2dup
ENST00000429182.5:c.413+2dup
ENST00000442157.1:c.544+2dup	ENSP00000403502.1:n.544+2dup
ENST00000462980.1:n.521+2dup
ENST00000491610.1:n.508dup
NM_000884.2:c.619+2dup	NP_000875.2:n.619+2dup
XM_006713128.2:c.829+2dup	XP_006713191.1:n.829+2dup
XM_006713128.3:c.829+2dup	XP_006713191.1:n.829+2dup
XM_017006349.1:c.754+2dup	XP_016861838.1:n.754+2dup
XM_017006350.1:c.754+2dup	XP_016861839.1:n.754+2dup
NM_000884.3:c.619+2dup MANE Select	NP_000875.2:n.619+2dup