Canonical Allele Identifier: CA352740511

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064230A>C (hg19) ; chr3:g.49026797A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026797A>C , CM000665.2:g.49026797A>C	GRCh38
NC_000003.11:g.49064230A>C , CM000665.1:g.49064230A>C	GRCh37
NC_000003.10:g.49039234A>C	NCBI36
NG_012091.1:g.7646T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2749T>G	ENSP00000515567.1:p.Ser917Ala
ENST00000703937.1:c.*1810T>G	ENSP00000515568.1:n.*1810T>G
ENST00000326739.9:c.709T>G MANE Select	ENSP00000321584.4:p.Ser237Ala
ENST00000429182.6:c.709T>G	ENSP00000393525.2:p.Ser237Ala
ENST00000442157.2:c.634T>G	ENSP00000403502.2:p.Ser212Ala
ENST00000462980.2:n.1224T>G
ENST00000472328.2:n.775T>G
ENST00000491610.2:n.669T>G
ENST00000676607.1:n.1005T>G
ENST00000676627.1:n.1439T>G
ENST00000676708.1:n.1989T>G
ENST00000676864.1:n.1858T>G
ENST00000677010.1:c.745T>G	ENSP00000503089.1:p.Ser249Ala
ENST00000677108.1:n.2615T>G
ENST00000677168.1:n.1181T>G
ENST00000677185.1:n.1272T>G
ENST00000677205.1:n.1493T>G
ENST00000677344.1:n.1983T>G
ENST00000677480.1:c.*386T>G	ENSP00000504378.1:n.*386T>G
ENST00000677519.1:n.1419T>G
ENST00000677593.1:n.1265T>G
ENST00000677740.1:n.2214T>G
ENST00000677991.1:n.1882T>G
ENST00000678001.1:n.1202T>G
ENST00000678085.1:n.1265T>G
ENST00000678177.1:n.2558T>G
ENST00000678603.1:n.1787T>G
ENST00000678724.1:c.634T>G	ENSP00000503874.1:p.Ser212Ala
ENST00000678920.1:n.867T>G
ENST00000679019.1:n.1479T>G
ENST00000679117.1:c.*524T>G	ENSP00000503240.1:n.*524T>G
ENST00000679339.1:n.1550T>G
ENST00000326739.8:c.709T>G	ENSP00000321584.4:p.Ser237Ala
ENST00000429182.5:c.503T>G
ENST00000442157.1:c.634T>G	ENSP00000403502.1:p.Ser212Ala
ENST00000462980.1:n.611T>G
ENST00000491610.1:n.669T>G
NM_000884.2:c.709T>G	NP_000875.2:p.Ser237Ala
XM_006713128.2:c.919T>G	XP_006713191.1:p.Ser307Ala
XM_006713128.3:c.919T>G	XP_006713191.1:p.Ser307Ala
XM_017006349.1:c.844T>G	XP_016861838.1:p.Ser282Ala
XM_017006350.1:c.844T>G	XP_016861839.1:p.Ser282Ala
NM_000884.3:c.709T>G MANE Select	NP_000875.2:p.Ser237Ala