Canonical Allele Identifier: CA433554483

Gene: IMPDH2

Linked Data

• dbSNP Id: rs1356435027
• gnomAD v3: 3-49026979-A-G
• gnomAD v4: 3-49026979-A-G
• MyVariant Identifiers: chr3:g.49064412A>G (hg19) ; chr3:g.49026979A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026979A>G , CM000665.2:g.49026979A>G	GRCh38
NC_000003.11:g.49064412A>G , CM000665.1:g.49064412A>G	GRCh37
NC_000003.10:g.49039416A>G	NCBI36
NG_012091.1:g.7464T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2640T>C	ENSP00000515567.1:p.Ile880=
ENST00000703937.1:c.*1701T>C	ENSP00000515568.1:n.*1701T>C
ENST00000326739.9:c.600T>C MANE Select	ENSP00000321584.4:p.Ile200=
ENST00000429182.6:c.600T>C	ENSP00000393525.2:p.Ile200=
ENST00000442157.2:c.525T>C	ENSP00000403502.2:p.Ile175=
ENST00000462980.2:n.1115T>C
ENST00000472328.2:n.666T>C
ENST00000491610.2:n.487T>C
ENST00000676607.1:n.896T>C
ENST00000676627.1:n.1330T>C
ENST00000676708.1:n.1807T>C
ENST00000676864.1:n.1676T>C
ENST00000677010.1:c.636T>C	ENSP00000503089.1:p.Ile212=
ENST00000677108.1:n.2433T>C
ENST00000677168.1:n.1072T>C
ENST00000677185.1:n.1090T>C
ENST00000677205.1:n.1311T>C
ENST00000677344.1:n.1801T>C
ENST00000677480.1:c.*277T>C	ENSP00000504378.1:n.*277T>C
ENST00000677519.1:n.1310T>C
ENST00000677593.1:n.1083T>C
ENST00000677740.1:n.2032T>C
ENST00000677991.1:n.1773T>C
ENST00000678001.1:n.1093T>C
ENST00000678085.1:n.1083T>C
ENST00000678177.1:n.2376T>C
ENST00000678603.1:n.1678T>C
ENST00000678724.1:c.525T>C	ENSP00000503874.1:p.Ile175=
ENST00000678920.1:n.758T>C
ENST00000679019.1:n.1297T>C
ENST00000679117.1:c.*415T>C	ENSP00000503240.1:n.*415T>C
ENST00000679339.1:n.1368T>C
ENST00000326739.8:c.600T>C	ENSP00000321584.4:p.Ile200=
ENST00000429182.5:c.394T>C
ENST00000442157.1:c.525T>C	ENSP00000403502.1:p.Ile175=
ENST00000462980.1:n.502T>C
ENST00000491610.1:n.487T>C
NM_000884.2:c.600T>C	NP_000875.2:p.Ile200=
XM_006713128.2:c.810T>C	XP_006713191.1:p.Ile270=
XM_006713128.3:c.810T>C	XP_006713191.1:p.Ile270=
XM_017006349.1:c.735T>C	XP_016861838.1:p.Ile245=
XM_017006350.1:c.735T>C	XP_016861839.1:p.Ile245=
NM_000884.3:c.600T>C MANE Select	NP_000875.2:p.Ile200=