Canonical Allele Identifier: CA352739998

Gene: IMPDH2

Linked Data

• gnomAD v4: 3-49026724-T-G
• MyVariant Identifiers: chr3:g.49064157T>G (hg19) ; chr3:g.49026724T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026724T>G , CM000665.2:g.49026724T>G	GRCh38
NC_000003.11:g.49064157T>G , CM000665.1:g.49064157T>G	GRCh37
NC_000003.10:g.49039161T>G	NCBI36
NG_012091.1:g.7719A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2822A>C	ENSP00000515567.1:p.Asp941Ala
ENST00000703937.1:c.*1883A>C	ENSP00000515568.1:n.*1883A>C
ENST00000326739.9:c.782A>C MANE Select	ENSP00000321584.4:p.Asp261Ala
ENST00000429182.6:c.782A>C	ENSP00000393525.2:p.Asp261Ala
ENST00000442157.2:c.707A>C	ENSP00000403502.2:p.Asp236Ala
ENST00000462980.2:n.1297A>C
ENST00000472328.2:n.848A>C
ENST00000491610.2:n.742A>C
ENST00000676607.1:n.1078A>C
ENST00000676627.1:n.1512A>C
ENST00000676708.1:n.2062A>C
ENST00000676864.1:n.1931A>C
ENST00000677010.1:c.818A>C	ENSP00000503089.1:p.Asp273Ala
ENST00000677108.1:n.2688A>C
ENST00000677168.1:n.1254A>C
ENST00000677185.1:n.1345A>C
ENST00000677205.1:n.1566A>C
ENST00000677344.1:n.2056A>C
ENST00000677480.1:c.*459A>C	ENSP00000504378.1:n.*459A>C
ENST00000677519.1:n.1492A>C
ENST00000677593.1:n.1338A>C
ENST00000677740.1:n.2287A>C
ENST00000677991.1:n.1955A>C
ENST00000678001.1:n.1275A>C
ENST00000678085.1:n.1338A>C
ENST00000678177.1:n.2631A>C
ENST00000678603.1:n.1860A>C
ENST00000678724.1:c.707A>C	ENSP00000503874.1:p.Asp236Ala
ENST00000678920.1:n.940A>C
ENST00000679019.1:n.1552A>C
ENST00000679117.1:c.*597A>C	ENSP00000503240.1:n.*597A>C
ENST00000679339.1:n.1623A>C
ENST00000326739.8:c.782A>C	ENSP00000321584.4:p.Asp261Ala
ENST00000429182.5:c.576A>C
ENST00000442157.1:c.707A>C	ENSP00000403502.1:p.Asp236Ala
ENST00000462980.1:n.684A>C
ENST00000491610.1:n.742A>C
NM_000884.2:c.782A>C	NP_000875.2:p.Asp261Ala
XM_006713128.2:c.992A>C	XP_006713191.1:p.Asp331Ala
XM_006713128.3:c.992A>C	XP_006713191.1:p.Asp331Ala
XM_017006349.1:c.917A>C	XP_016861838.1:p.Asp306Ala
XM_017006350.1:c.917A>C	XP_016861839.1:p.Asp306Ala
NM_000884.3:c.782A>C MANE Select	NP_000875.2:p.Asp261Ala