Canonical Allele Identifier: CA433629495

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064135C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026702C>G , CM000665.2:g.49026702C>G	GRCh38
NC_000003.11:g.49064135C>G , CM000665.1:g.49064135C>G	GRCh37
NC_000003.10:g.49039139C>G	NCBI36
NG_012091.1:g.7741G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2844G>C	ENSP00000515567.1:p.Val948=
ENST00000703937.1:c.*1905G>C	ENSP00000515568.1:n.*1905G>C
ENST00000326739.9:c.804G>C MANE Select	ENSP00000321584.4:p.Val268=
ENST00000429182.6:c.804G>C	ENSP00000393525.2:p.Val268=
ENST00000442157.2:c.729G>C	ENSP00000403502.2:p.Val243=
ENST00000462980.2:n.1319G>C
ENST00000472328.2:n.870G>C
ENST00000491610.2:n.764G>C
ENST00000676607.1:n.1100G>C
ENST00000676627.1:n.1534G>C
ENST00000676708.1:n.2084G>C
ENST00000676864.1:n.1953G>C
ENST00000677010.1:c.840G>C	ENSP00000503089.1:p.Val280=
ENST00000677108.1:n.2710G>C
ENST00000677168.1:n.1276G>C
ENST00000677185.1:n.1367G>C
ENST00000677205.1:n.1588G>C
ENST00000677344.1:n.2078G>C
ENST00000677480.1:c.*481G>C	ENSP00000504378.1:n.*481G>C
ENST00000677519.1:n.1514G>C
ENST00000677593.1:n.1360G>C
ENST00000677740.1:n.2309G>C
ENST00000677991.1:n.1977G>C
ENST00000678001.1:n.1297G>C
ENST00000678085.1:n.1360G>C
ENST00000678177.1:n.2653G>C
ENST00000678603.1:n.1882G>C
ENST00000678724.1:c.729G>C	ENSP00000503874.1:p.Val243=
ENST00000678920.1:n.962G>C
ENST00000679019.1:n.1574G>C
ENST00000679117.1:c.*619G>C	ENSP00000503240.1:n.*619G>C
ENST00000679339.1:n.1645G>C
ENST00000326739.8:c.804G>C	ENSP00000321584.4:p.Val268=
ENST00000429182.5:c.598G>C
ENST00000442157.1:c.729G>C	ENSP00000403502.1:p.Val243=
ENST00000462980.1:n.706G>C
ENST00000491610.1:n.764G>C
NM_000884.2:c.804G>C	NP_000875.2:p.Val268=
XM_006713128.2:c.1014G>C	XP_006713191.1:p.Val338=
XM_006713128.3:c.1014G>C	XP_006713191.1:p.Val338=
XM_017006349.1:c.939G>C	XP_016861838.1:p.Val313=
XM_017006350.1:c.939G>C	XP_016861839.1:p.Val313=
NM_000884.3:c.804G>C MANE Select	NP_000875.2:p.Val268=