Canonical Allele Identifier: CA352740055

Gene: IMPDH2

Linked Data

• dbSNP Id: rs1219770046
• gnomAD v2: 3-49064169-T-C
• gnomAD v3: 3-49026736-T-C
• gnomAD v4: 3-49026736-T-C
• MyVariant Identifiers: chr3:g.49064169T>C (hg19) ; chr3:g.49026736T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026736T>C , CM000665.2:g.49026736T>C	GRCh38
NC_000003.11:g.49064169T>C , CM000665.1:g.49064169T>C	GRCh37
NC_000003.10:g.49039173T>C	NCBI36
NG_012091.1:g.7707A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2810A>G	ENSP00000515567.1:p.Lys937Arg
ENST00000703937.1:c.*1871A>G	ENSP00000515568.1:n.*1871A>G
ENST00000326739.9:c.770A>G MANE Select	ENSP00000321584.4:p.Lys257Arg
ENST00000429182.6:c.770A>G	ENSP00000393525.2:p.Lys257Arg
ENST00000442157.2:c.695A>G	ENSP00000403502.2:p.Lys232Arg
ENST00000462980.2:n.1285A>G
ENST00000472328.2:n.836A>G
ENST00000491610.2:n.730A>G
ENST00000676607.1:n.1066A>G
ENST00000676627.1:n.1500A>G
ENST00000676708.1:n.2050A>G
ENST00000676864.1:n.1919A>G
ENST00000677010.1:c.806A>G	ENSP00000503089.1:p.Lys269Arg
ENST00000677108.1:n.2676A>G
ENST00000677168.1:n.1242A>G
ENST00000677185.1:n.1333A>G
ENST00000677205.1:n.1554A>G
ENST00000677344.1:n.2044A>G
ENST00000677480.1:c.*447A>G	ENSP00000504378.1:n.*447A>G
ENST00000677519.1:n.1480A>G
ENST00000677593.1:n.1326A>G
ENST00000677740.1:n.2275A>G
ENST00000677991.1:n.1943A>G
ENST00000678001.1:n.1263A>G
ENST00000678085.1:n.1326A>G
ENST00000678177.1:n.2619A>G
ENST00000678603.1:n.1848A>G
ENST00000678724.1:c.695A>G	ENSP00000503874.1:p.Lys232Arg
ENST00000678920.1:n.928A>G
ENST00000679019.1:n.1540A>G
ENST00000679117.1:c.*585A>G	ENSP00000503240.1:n.*585A>G
ENST00000679339.1:n.1611A>G
ENST00000326739.8:c.770A>G	ENSP00000321584.4:p.Lys257Arg
ENST00000429182.5:c.564A>G
ENST00000442157.1:c.695A>G	ENSP00000403502.1:p.Lys232Arg
ENST00000462980.1:n.672A>G
ENST00000491610.1:n.730A>G
NM_000884.2:c.770A>G	NP_000875.2:p.Lys257Arg
XM_006713128.2:c.980A>G	XP_006713191.1:p.Lys327Arg
XM_006713128.3:c.980A>G	XP_006713191.1:p.Lys327Arg
XM_017006349.1:c.905A>G	XP_016861838.1:p.Lys302Arg
XM_017006350.1:c.905A>G	XP_016861839.1:p.Lys302Arg
NM_000884.3:c.770A>G MANE Select	NP_000875.2:p.Lys257Arg