Canonical Allele Identifier: CA352741162

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064305C>G (hg19) ; chr3:g.49026872C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026872C>G , CM000665.2:g.49026872C>G	GRCh38
NC_000003.11:g.49064305C>G , CM000665.1:g.49064305C>G	GRCh37
NC_000003.10:g.49039309C>G	NCBI36
NG_012091.1:g.7571G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2674G>C	ENSP00000515567.1:p.Val892Leu
ENST00000703937.1:c.*1735G>C	ENSP00000515568.1:n.*1735G>C
ENST00000326739.9:c.634G>C MANE Select	ENSP00000321584.4:p.Val212Leu
ENST00000429182.6:c.634G>C	ENSP00000393525.2:p.Val212Leu
ENST00000442157.2:c.559G>C	ENSP00000403502.2:p.Val187Leu
ENST00000462980.2:n.1149G>C
ENST00000472328.2:n.700G>C
ENST00000491610.2:n.594G>C
ENST00000676607.1:n.930G>C
ENST00000676627.1:n.1364G>C
ENST00000676708.1:n.1914G>C
ENST00000676864.1:n.1783G>C
ENST00000677010.1:c.670G>C	ENSP00000503089.1:p.Val224Leu
ENST00000677108.1:n.2540G>C
ENST00000677168.1:n.1106G>C
ENST00000677185.1:n.1197G>C
ENST00000677205.1:n.1418G>C
ENST00000677344.1:n.1908G>C
ENST00000677480.1:c.*311G>C	ENSP00000504378.1:n.*311G>C
ENST00000677519.1:n.1344G>C
ENST00000677593.1:n.1190G>C
ENST00000677740.1:n.2139G>C
ENST00000677991.1:n.1807G>C
ENST00000678001.1:n.1127G>C
ENST00000678085.1:n.1190G>C
ENST00000678177.1:n.2483G>C
ENST00000678603.1:n.1712G>C
ENST00000678724.1:c.559G>C	ENSP00000503874.1:p.Val187Leu
ENST00000678920.1:n.792G>C
ENST00000679019.1:n.1404G>C
ENST00000679117.1:c.*449G>C	ENSP00000503240.1:n.*449G>C
ENST00000679339.1:n.1475G>C
ENST00000326739.8:c.634G>C	ENSP00000321584.4:p.Val212Leu
ENST00000429182.5:c.428G>C
ENST00000442157.1:c.559G>C	ENSP00000403502.1:p.Val187Leu
ENST00000462980.1:n.536G>C
ENST00000491610.1:n.594G>C
NM_000884.2:c.634G>C	NP_000875.2:p.Val212Leu
XM_006713128.2:c.844G>C	XP_006713191.1:p.Val282Leu
XM_006713128.3:c.844G>C	XP_006713191.1:p.Val282Leu
XM_017006349.1:c.769G>C	XP_016861838.1:p.Val257Leu
XM_017006350.1:c.769G>C	XP_016861839.1:p.Val257Leu
NM_000884.3:c.634G>C MANE Select	NP_000875.2:p.Val212Leu