Canonical Allele Identifier: CA2390632

Gene: IMPDH2

Linked Data

• dbSNP Id: rs758571773
• ExAC: 3:49064288 CTCA / C
• gnomAD v2: 3-49064288-CTCA-C
• gnomAD v4: 3-49026855-CTCA-C
• MyVariant Identifiers: chr3:g.49064289_49064291del (hg19) ; chr3:g.49026856_49026858del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026861_49026863del , CM000665.2:g.49026861_49026863del	GRCh38
NC_000003.11:g.49064294_49064296del , CM000665.1:g.49064294_49064296del	GRCh37
NC_000003.10:g.49039298_49039300del	NCBI36
NG_012091.1:g.7585_7587del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2688_2690del	ENSP00000515567.1:p.Asp896del
ENST00000703937.1:c.*1749_*1751del	ENSP00000515568.1:n.*1749_*1751del
ENST00000326739.9:c.648_650del MANE Select	ENSP00000321584.4:p.Asp216del
ENST00000429182.6:c.648_650del	ENSP00000393525.2:p.Asp216del
ENST00000442157.2:c.573_575del	ENSP00000403502.2:p.Asp191del
ENST00000462980.2:n.1163_1165del
ENST00000472328.2:n.714_716del
ENST00000491610.2:n.608_610del
ENST00000676607.1:n.944_946del
ENST00000676627.1:n.1378_1380del
ENST00000676708.1:n.1928_1930del
ENST00000676864.1:n.1797_1799del
ENST00000677010.1:c.684_686del	ENSP00000503089.1:p.Asp228del
ENST00000677108.1:n.2554_2556del
ENST00000677168.1:n.1120_1122del
ENST00000677185.1:n.1211_1213del
ENST00000677205.1:n.1432_1434del
ENST00000677344.1:n.1922_1924del
ENST00000677480.1:c.*325_*327del	ENSP00000504378.1:n.*325_*327del
ENST00000677519.1:n.1358_1360del
ENST00000677593.1:n.1204_1206del
ENST00000677740.1:n.2153_2155del
ENST00000677991.1:n.1821_1823del
ENST00000678001.1:n.1141_1143del
ENST00000678085.1:n.1204_1206del
ENST00000678177.1:n.2497_2499del
ENST00000678603.1:n.1726_1728del
ENST00000678724.1:c.573_575del	ENSP00000503874.1:p.Asp191del
ENST00000678920.1:n.806_808del
ENST00000679019.1:n.1418_1420del
ENST00000679117.1:c.*463_*465del	ENSP00000503240.1:n.*463_*465del
ENST00000679339.1:n.1489_1491del
ENST00000326739.8:c.648_650del	ENSP00000321584.4:p.Asp216del
ENST00000429182.5:c.442_444del
ENST00000442157.1:c.573_575del	ENSP00000403502.1:p.Asp191del
ENST00000462980.1:n.550_552del
ENST00000491610.1:n.608_610del
NM_000884.2:c.648_650del	NP_000875.2:p.Asp216del
XM_006713128.2:c.858_860del	XP_006713191.1:p.Asp286del
XM_006713128.3:c.858_860del	XP_006713191.1:p.Asp286del
XM_017006349.1:c.783_785del	XP_016861838.1:p.Asp261del
XM_017006350.1:c.783_785del	XP_016861839.1:p.Asp261del
NM_000884.3:c.648_650del MANE Select	NP_000875.2:p.Asp216del