Canonical Allele Identifier: CA352740019

Gene: IMPDH2

Linked Data

• gnomAD v4: 3-49026729-C-A
• MyVariant Identifiers: chr3:g.49064162C>A (hg19) ; chr3:g.49026729C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026729C>A , CM000665.2:g.49026729C>A	GRCh38
NC_000003.11:g.49064162C>A , CM000665.1:g.49064162C>A	GRCh37
NC_000003.10:g.49039166C>A	NCBI36
NG_012091.1:g.7714G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2817G>T	ENSP00000515567.1:p.Arg939Ser
ENST00000703937.1:c.*1878G>T	ENSP00000515568.1:n.*1878G>T
ENST00000326739.9:c.777G>T MANE Select	ENSP00000321584.4:p.Arg259Ser
ENST00000429182.6:c.777G>T	ENSP00000393525.2:p.Arg259Ser
ENST00000442157.2:c.702G>T	ENSP00000403502.2:p.Arg234Ser
ENST00000462980.2:n.1292G>T
ENST00000472328.2:n.843G>T
ENST00000491610.2:n.737G>T
ENST00000676607.1:n.1073G>T
ENST00000676627.1:n.1507G>T
ENST00000676708.1:n.2057G>T
ENST00000676864.1:n.1926G>T
ENST00000677010.1:c.813G>T	ENSP00000503089.1:p.Arg271Ser
ENST00000677108.1:n.2683G>T
ENST00000677168.1:n.1249G>T
ENST00000677185.1:n.1340G>T
ENST00000677205.1:n.1561G>T
ENST00000677344.1:n.2051G>T
ENST00000677480.1:c.*454G>T	ENSP00000504378.1:n.*454G>T
ENST00000677519.1:n.1487G>T
ENST00000677593.1:n.1333G>T
ENST00000677740.1:n.2282G>T
ENST00000677991.1:n.1950G>T
ENST00000678001.1:n.1270G>T
ENST00000678085.1:n.1333G>T
ENST00000678177.1:n.2626G>T
ENST00000678603.1:n.1855G>T
ENST00000678724.1:c.702G>T	ENSP00000503874.1:p.Arg234Ser
ENST00000678920.1:n.935G>T
ENST00000679019.1:n.1547G>T
ENST00000679117.1:c.*592G>T	ENSP00000503240.1:n.*592G>T
ENST00000679339.1:n.1618G>T
ENST00000326739.8:c.777G>T	ENSP00000321584.4:p.Arg259Ser
ENST00000429182.5:c.571G>T
ENST00000442157.1:c.702G>T	ENSP00000403502.1:p.Arg234Ser
ENST00000462980.1:n.679G>T
ENST00000491610.1:n.737G>T
NM_000884.2:c.777G>T	NP_000875.2:p.Arg259Ser
XM_006713128.2:c.987G>T	XP_006713191.1:p.Arg329Ser
XM_006713128.3:c.987G>T	XP_006713191.1:p.Arg329Ser
XM_017006349.1:c.912G>T	XP_016861838.1:p.Arg304Ser
XM_017006350.1:c.912G>T	XP_016861839.1:p.Arg304Ser
NM_000884.3:c.777G>T MANE Select	NP_000875.2:p.Arg259Ser