Canonical Allele Identifier: CA352741469

Gene: IMPDH2

Linked Data

• dbSNP Id: rs1357553007
• gnomAD v2: 3-49064392-C-G
• gnomAD v4: 3-49026959-C-G
• MyVariant Identifiers: chr3:g.49064392C>G (hg19) ; chr3:g.49026959C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026959C>G , CM000665.2:g.49026959C>G	GRCh38
NC_000003.11:g.49064392C>G , CM000665.1:g.49064392C>G	GRCh37
NC_000003.10:g.49039396C>G	NCBI36
NG_012091.1:g.7484G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2659+1G>C	ENSP00000515567.1:n.2659+1G>C
ENST00000703937.1:c.*1720+1G>C	ENSP00000515568.1:n.*1720+1G>C
ENST00000326739.9:c.619+1G>C MANE Select	ENSP00000321584.4:n.619+1G>C
ENST00000429182.6:c.619+1G>C	ENSP00000393525.2:n.619+1G>C
ENST00000442157.2:c.544+1G>C	ENSP00000403502.2:n.544+1G>C
ENST00000462980.2:n.1134+1G>C
ENST00000472328.2:n.685+1G>C
ENST00000491610.2:n.507G>C
ENST00000676607.1:n.915+1G>C
ENST00000676627.1:n.1349+1G>C
ENST00000676708.1:n.1827G>C
ENST00000676864.1:n.1696G>C
ENST00000677010.1:c.655+1G>C	ENSP00000503089.1:n.655+1G>C
ENST00000677108.1:n.2453G>C
ENST00000677168.1:n.1091+1G>C
ENST00000677185.1:n.1110G>C
ENST00000677205.1:n.1331G>C
ENST00000677344.1:n.1821G>C
ENST00000677480.1:c.*296+1G>C	ENSP00000504378.1:n.*296+1G>C
ENST00000677519.1:n.1329+1G>C
ENST00000677593.1:n.1103G>C
ENST00000677740.1:n.2052G>C
ENST00000677991.1:n.1792+1G>C
ENST00000678001.1:n.1112+1G>C
ENST00000678085.1:n.1103G>C
ENST00000678177.1:n.2396G>C
ENST00000678603.1:n.1697+1G>C
ENST00000678724.1:c.544+1G>C	ENSP00000503874.1:n.544+1G>C
ENST00000678920.1:n.777+1G>C
ENST00000679019.1:n.1317G>C
ENST00000679117.1:c.*434+1G>C	ENSP00000503240.1:n.*434+1G>C
ENST00000679339.1:n.1388G>C
ENST00000326739.8:c.619+1G>C	ENSP00000321584.4:n.619+1G>C
ENST00000429182.5:c.413+1G>C
ENST00000442157.1:c.544+1G>C	ENSP00000403502.1:n.544+1G>C
ENST00000462980.1:n.521+1G>C
ENST00000491610.1:n.507G>C
NM_000884.2:c.619+1G>C	NP_000875.2:n.619+1G>C
XM_006713128.2:c.829+1G>C	XP_006713191.1:n.829+1G>C
XM_006713128.3:c.829+1G>C	XP_006713191.1:n.829+1G>C
XM_017006349.1:c.754+1G>C	XP_016861838.1:n.754+1G>C
XM_017006350.1:c.754+1G>C	XP_016861839.1:n.754+1G>C
NM_000884.3:c.619+1G>C MANE Select	NP_000875.2:n.619+1G>C