Canonical Allele Identifier: CA543047621

Gene: IMPDH2

Linked Data

• dbSNP Id: rs1354371703
• gnomAD v2: 3-49064067-CTG-C
• gnomAD v4: 3-49026634-CTG-C
• MyVariant Identifiers: chr3:g.49064068_49064069del (hg19) ; chr3:g.49026635_49026636del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026637_49026638del , CM000665.2:g.49026637_49026638del	GRCh38
NC_000003.11:g.49064070_49064071del , CM000665.1:g.49064070_49064071del	GRCh37
NC_000003.10:g.49039074_49039075del	NCBI36
NG_012091.1:g.7807_7808del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2860-27_2860-26del	ENSP00000515567.1:n.2860-27_2860-26del
ENST00000703937.1:c.*1921-27_*1921-26del	ENSP00000515568.1:n.*1921-27_*1921-26del
ENST00000326739.9:c.820-27_820-26del MANE Select	ENSP00000321584.4:n.820-27_820-26del
ENST00000429182.6:c.820-27_820-26del	ENSP00000393525.2:n.820-27_820-26del
ENST00000442157.2:c.745-27_745-26del	ENSP00000403502.2:n.745-27_745-26del
ENST00000462980.2:n.1335-27_1335-26del
ENST00000472328.2:n.886-27_886-26del
ENST00000491610.2:n.780-27_780-26del
ENST00000676607.1:n.1116-27_1116-26del
ENST00000676627.1:n.1550-27_1550-26del
ENST00000676708.1:n.2100-27_2100-26del
ENST00000676864.1:n.1969-27_1969-26del
ENST00000677010.1:c.856-39_856-38del	ENSP00000503089.1:n.856-39_856-38del
ENST00000677108.1:n.2776_2777del
ENST00000677168.1:n.1292-27_1292-26del
ENST00000677185.1:n.1383-27_1383-26del
ENST00000677205.1:n.1604-27_1604-26del
ENST00000677344.1:n.2094-27_2094-26del
ENST00000677480.1:c.*497-27_*497-26del	ENSP00000504378.1:n.*497-27_*497-26del
ENST00000677519.1:n.1530-27_1530-26del
ENST00000677593.1:n.1376-27_1376-26del
ENST00000677740.1:n.2325-27_2325-26del
ENST00000677991.1:n.1993-27_1993-26del
ENST00000678001.1:n.1313-27_1313-26del
ENST00000678085.1:n.1426_1427del
ENST00000678177.1:n.2719_2720del
ENST00000678603.1:n.1898-27_1898-26del
ENST00000678724.1:c.745-27_745-26del	ENSP00000503874.1:n.745-27_745-26del
ENST00000678920.1:n.978-27_978-26del
ENST00000679019.1:n.1640_1641del
ENST00000679117.1:c.*635-27_*635-26del	ENSP00000503240.1:n.*635-27_*635-26del
ENST00000679339.1:n.1661-27_1661-26del
ENST00000326739.8:c.820-27_820-26del	ENSP00000321584.4:n.820-27_820-26del
ENST00000429182.5:c.614-27_614-26del
ENST00000442157.1:c.745-27_745-26del	ENSP00000403502.1:n.745-27_745-26del
ENST00000462980.1:n.722-27_722-26del
ENST00000491610.1:n.780-27_780-26del
NM_000884.2:c.820-27_820-26del	NP_000875.2:n.820-27_820-26del
XM_006713128.2:c.1030-27_1030-26del	XP_006713191.1:n.1030-27_1030-26del
XM_006713128.3:c.1030-27_1030-26del	XP_006713191.1:n.1030-27_1030-26del
XM_017006349.1:c.955-27_955-26del	XP_016861838.1:n.955-27_955-26del
XM_017006350.1:c.955-27_955-26del	XP_016861839.1:n.955-27_955-26del
NM_000884.3:c.820-27_820-26del MANE Select	NP_000875.2:n.820-27_820-26del