Canonical Allele Identifier: CA352740206

Gene: IMPDH2

Linked Data

• dbSNP Id: rs767704477
• gnomAD v2: 3-49064190-A-G
• gnomAD v4: 3-49026757-A-G
• MyVariant Identifiers: chr3:g.49064190A>G (hg19) ; chr3:g.49026757A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026757A>G , CM000665.2:g.49026757A>G	GRCh38
NC_000003.11:g.49064190A>G , CM000665.1:g.49064190A>G	GRCh37
NC_000003.10:g.49039194A>G	NCBI36
NG_012091.1:g.7686T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2789T>C	ENSP00000515567.1:p.Ile930Thr
ENST00000703937.1:c.*1850T>C	ENSP00000515568.1:n.*1850T>C
ENST00000326739.9:c.749T>C MANE Select	ENSP00000321584.4:p.Ile250Thr
ENST00000429182.6:c.749T>C	ENSP00000393525.2:p.Ile250Thr
ENST00000442157.2:c.674T>C	ENSP00000403502.2:p.Ile225Thr
ENST00000462980.2:n.1264T>C
ENST00000472328.2:n.815T>C
ENST00000491610.2:n.709T>C
ENST00000676607.1:n.1045T>C
ENST00000676627.1:n.1479T>C
ENST00000676708.1:n.2029T>C
ENST00000676864.1:n.1898T>C
ENST00000677010.1:c.785T>C	ENSP00000503089.1:p.Ile262Thr
ENST00000677108.1:n.2655T>C
ENST00000677168.1:n.1221T>C
ENST00000677185.1:n.1312T>C
ENST00000677205.1:n.1533T>C
ENST00000677344.1:n.2023T>C
ENST00000677480.1:c.*426T>C	ENSP00000504378.1:n.*426T>C
ENST00000677519.1:n.1459T>C
ENST00000677593.1:n.1305T>C
ENST00000677740.1:n.2254T>C
ENST00000677991.1:n.1922T>C
ENST00000678001.1:n.1242T>C
ENST00000678085.1:n.1305T>C
ENST00000678177.1:n.2598T>C
ENST00000678603.1:n.1827T>C
ENST00000678724.1:c.674T>C	ENSP00000503874.1:p.Ile225Thr
ENST00000678920.1:n.907T>C
ENST00000679019.1:n.1519T>C
ENST00000679117.1:c.*564T>C	ENSP00000503240.1:n.*564T>C
ENST00000679339.1:n.1590T>C
ENST00000326739.8:c.749T>C	ENSP00000321584.4:p.Ile250Thr
ENST00000429182.5:c.543T>C
ENST00000442157.1:c.674T>C	ENSP00000403502.1:p.Ile225Thr
ENST00000462980.1:n.651T>C
ENST00000491610.1:n.709T>C
NM_000884.2:c.749T>C	NP_000875.2:p.Ile250Thr
XM_006713128.2:c.959T>C	XP_006713191.1:p.Ile320Thr
XM_006713128.3:c.959T>C	XP_006713191.1:p.Ile320Thr
XM_017006349.1:c.884T>C	XP_016861838.1:p.Ile295Thr
XM_017006350.1:c.884T>C	XP_016861839.1:p.Ile295Thr
NM_000884.3:c.749T>C MANE Select	NP_000875.2:p.Ile250Thr