Canonical Allele Identifier: CA543047608

Gene: IMPDH2

Linked Data

• dbSNP Id: rs1213501136
• gnomAD v2: 3-49064210-C-CTGTTTCTT
• gnomAD v3: 3-49026777-C-CTGTTTCTT
• gnomAD v4: 3-49026777-C-CTGTTTCTT
• MyVariant Identifiers: chr3:g.49064210_49064211insTGTTTCTT (hg19) ; chr3:g.49026777_49026778insTGTTTCTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026778_49026785dup , CM000665.2:g.49026778_49026785dup	GRCh38
NC_000003.11:g.49064211_49064218dup , CM000665.1:g.49064211_49064218dup	GRCh37
NC_000003.10:g.49039215_49039222dup	NCBI36
NG_012091.1:g.7658_7665dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2761_2768dup	ENSP00000515567.1:p.Leu924ArgfsTer30
ENST00000703937.1:c.*1822_*1829dup	ENSP00000515568.1:n.*1822_*1829dup
ENST00000326739.9:c.721_728dup MANE Select	ENSP00000321584.4:p.Leu244ArgfsTer30
ENST00000429182.6:c.721_728dup	ENSP00000393525.2:p.Leu244ArgfsTer30
ENST00000442157.2:c.646_653dup	ENSP00000403502.2:p.Leu219ArgfsTer30
ENST00000462980.2:n.1236_1243dup
ENST00000472328.2:n.787_794dup
ENST00000491610.2:n.681_688dup
ENST00000676607.1:n.1017_1024dup
ENST00000676627.1:n.1451_1458dup
ENST00000676708.1:n.2001_2008dup
ENST00000676864.1:n.1870_1877dup
ENST00000677010.1:c.757_764dup	ENSP00000503089.1:p.Leu256ArgfsTer30
ENST00000677108.1:n.2627_2634dup
ENST00000677168.1:n.1193_1200dup
ENST00000677185.1:n.1284_1291dup
ENST00000677205.1:n.1505_1512dup
ENST00000677344.1:n.1995_2002dup
ENST00000677480.1:c.*398_*405dup	ENSP00000504378.1:n.*398_*405dup
ENST00000677519.1:n.1431_1438dup
ENST00000677593.1:n.1277_1284dup
ENST00000677740.1:n.2226_2233dup
ENST00000677991.1:n.1894_1901dup
ENST00000678001.1:n.1214_1221dup
ENST00000678085.1:n.1277_1284dup
ENST00000678177.1:n.2570_2577dup
ENST00000678603.1:n.1799_1806dup
ENST00000678724.1:c.646_653dup	ENSP00000503874.1:p.Leu219ArgfsTer30
ENST00000678920.1:n.879_886dup
ENST00000679019.1:n.1491_1498dup
ENST00000679117.1:c.*536_*543dup	ENSP00000503240.1:n.*536_*543dup
ENST00000679339.1:n.1562_1569dup
ENST00000326739.8:c.721_728dup	ENSP00000321584.4:p.Leu244ArgfsTer30
ENST00000429182.5:c.515_522dup
ENST00000442157.1:c.646_653dup	ENSP00000403502.1:p.Leu219ArgfsTer30
ENST00000462980.1:n.623_630dup
ENST00000491610.1:n.681_688dup
NM_000884.2:c.721_728dup	NP_000875.2:p.Leu244ArgfsTer30
XM_006713128.2:c.931_938dup	XP_006713191.1:p.Leu314ArgfsTer30
XM_006713128.3:c.931_938dup	XP_006713191.1:p.Leu314ArgfsTer30
XM_017006349.1:c.856_863dup	XP_016861838.1:p.Leu289ArgfsTer30
XM_017006350.1:c.856_863dup	XP_016861839.1:p.Leu289ArgfsTer30
NM_000884.3:c.721_728dup MANE Select	NP_000875.2:p.Leu244ArgfsTer30