Canonical Allele Identifier: CA352739816

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064125C>G (hg19) ; chr3:g.49026692C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026692C>G , CM000665.2:g.49026692C>G	GRCh38
NC_000003.11:g.49064125C>G , CM000665.1:g.49064125C>G	GRCh37
NC_000003.10:g.49039129C>G	NCBI36
NG_012091.1:g.7751G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000703936.1:c.2854G>C	ENSP00000515567.1:p.Val952Leu
ENST00000703937.1:c.*1915G>C	ENSP00000515568.1:n.*1915G>C
ENST00000326739.9:c.814G>C MANE Select	ENSP00000321584.4:p.Val272Leu
ENST00000429182.6:c.814G>C	ENSP00000393525.2:p.Val272Leu
ENST00000442157.2:c.739G>C	ENSP00000403502.2:p.Val247Leu
ENST00000462980.2:n.1329G>C
ENST00000472328.2:n.880G>C
ENST00000491610.2:n.774G>C
ENST00000676607.1:n.1110G>C
ENST00000676627.1:n.1544G>C
ENST00000676708.1:n.2094G>C
ENST00000676864.1:n.1963G>C
ENST00000677010.1:c.850G>C	ENSP00000503089.1:p.Val284Leu
ENST00000677108.1:n.2720G>C
ENST00000677168.1:n.1286G>C
ENST00000677185.1:n.1377G>C
ENST00000677205.1:n.1598G>C
ENST00000677344.1:n.2088G>C
ENST00000677480.1:c.*491G>C	ENSP00000504378.1:n.*491G>C
ENST00000677519.1:n.1524G>C
ENST00000677593.1:n.1370G>C
ENST00000677740.1:n.2319G>C
ENST00000677991.1:n.1987G>C
ENST00000678001.1:n.1307G>C
ENST00000678085.1:n.1370G>C
ENST00000678177.1:n.2663G>C
ENST00000678603.1:n.1892G>C
ENST00000678724.1:c.739G>C	ENSP00000503874.1:p.Val247Leu
ENST00000678920.1:n.972G>C
ENST00000679019.1:n.1584G>C
ENST00000679117.1:c.*629G>C	ENSP00000503240.1:n.*629G>C
ENST00000679339.1:n.1655G>C
ENST00000326739.8:c.814G>C	ENSP00000321584.4:p.Val272Leu
ENST00000429182.5:c.608G>C
ENST00000442157.1:c.739G>C	ENSP00000403502.1:p.Val247Leu
ENST00000462980.1:n.716G>C
ENST00000491610.1:n.774G>C
NM_000884.2:c.814G>C	NP_000875.2:p.Val272Leu
XM_006713128.2:c.1024G>C	XP_006713191.1:p.Val342Leu
XM_006713128.3:c.1024G>C	XP_006713191.1:p.Val342Leu
XM_017006349.1:c.949G>C	XP_016861838.1:p.Val317Leu
XM_017006350.1:c.949G>C	XP_016861839.1:p.Val317Leu
NM_000884.3:c.814G>C MANE Select	NP_000875.2:p.Val272Leu