Canonical Allele Identifier: CA352739533

Gene: IMPDH2

Linked Data

• gnomAD v4: 3-49026578-A-G
• MyVariant Identifiers: chr3:g.49064011A>G (hg19) ; chr3:g.49026578A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026578A>G , CM000665.2:g.49026578A>G	GRCh38
NC_000003.11:g.49064011A>G , CM000665.1:g.49064011A>G	GRCh37
NC_000003.10:g.49039015A>G	NCBI36
NG_012091.1:g.7865T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000703936.1:c.2891T>C	ENSP00000515567.1:p.Ile964Thr
ENST00000703937.1:c.*1952T>C	ENSP00000515568.1:n.*1952T>C
ENST00000326739.9:c.851T>C MANE Select	ENSP00000321584.4:p.Ile284Thr
ENST00000429182.6:c.851T>C	ENSP00000393525.2:p.Ile284Thr
ENST00000442157.2:c.776T>C	ENSP00000403502.2:p.Ile259Thr
ENST00000462980.2:n.1366T>C
ENST00000472328.2:n.917T>C
ENST00000491610.2:n.811T>C
ENST00000676607.1:n.1147T>C
ENST00000676627.1:n.1581T>C
ENST00000676708.1:n.2131T>C
ENST00000676864.1:n.2000T>C
ENST00000677010.1:c.875T>C	ENSP00000503089.1:p.Ile292Thr
ENST00000677108.1:n.2834T>C
ENST00000677168.1:n.1323T>C
ENST00000677185.1:n.1414T>C
ENST00000677205.1:n.1635T>C
ENST00000677344.1:n.2125T>C
ENST00000677480.1:c.*528T>C	ENSP00000504378.1:n.*528T>C
ENST00000677519.1:n.1561T>C
ENST00000677593.1:n.1407T>C
ENST00000677740.1:n.2356T>C
ENST00000677991.1:n.2024T>C
ENST00000678001.1:n.1344T>C
ENST00000678085.1:n.1484T>C
ENST00000678177.1:n.2777T>C
ENST00000678603.1:n.1929T>C
ENST00000678724.1:c.776T>C	ENSP00000503874.1:p.Ile259Thr
ENST00000678920.1:n.1009T>C
ENST00000679019.1:n.1698T>C
ENST00000679117.1:c.*666T>C	ENSP00000503240.1:n.*666T>C
ENST00000679339.1:n.1692T>C
ENST00000326739.8:c.851T>C	ENSP00000321584.4:p.Ile284Thr
ENST00000429182.5:c.645T>C
ENST00000442157.1:c.776T>C	ENSP00000403502.1:p.Ile259Thr
ENST00000462980.1:n.753T>C
ENST00000491610.1:n.811T>C
NM_000884.2:c.851T>C	NP_000875.2:p.Ile284Thr
XM_006713128.2:c.1061T>C	XP_006713191.1:p.Ile354Thr
XM_006713128.3:c.1061T>C	XP_006713191.1:p.Ile354Thr
XM_017006349.1:c.986T>C	XP_016861838.1:p.Ile329Thr
XM_017006350.1:c.986T>C	XP_016861839.1:p.Ile329Thr
NM_000884.3:c.851T>C MANE Select	NP_000875.2:p.Ile284Thr