Canonical Allele Identifier: CA352741792

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064427C>G (hg19) ; chr3:g.49026994C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026994C>G , CM000665.2:g.49026994C>G	GRCh38
NC_000003.11:g.49064427C>G , CM000665.1:g.49064427C>G	GRCh37
NC_000003.10:g.49039431C>G	NCBI36
NG_012091.1:g.7449G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2625G>C	ENSP00000515567.1:p.Lys875Asn
ENST00000703937.1:c.*1686G>C	ENSP00000515568.1:n.*1686G>C
ENST00000326739.9:c.585G>C MANE Select	ENSP00000321584.4:p.Lys195Asn
ENST00000429182.6:c.585G>C	ENSP00000393525.2:p.Lys195Asn
ENST00000442157.2:c.510G>C	ENSP00000403502.2:p.Lys170Asn
ENST00000462980.2:n.1100G>C
ENST00000472328.2:n.651G>C
ENST00000491610.2:n.472G>C
ENST00000676607.1:n.881G>C
ENST00000676627.1:n.1315G>C
ENST00000676708.1:n.1792G>C
ENST00000676864.1:n.1661G>C
ENST00000677010.1:c.621G>C	ENSP00000503089.1:p.Lys207Asn
ENST00000677108.1:n.2418G>C
ENST00000677168.1:n.1057G>C
ENST00000677185.1:n.1075G>C
ENST00000677205.1:n.1296G>C
ENST00000677344.1:n.1786G>C
ENST00000677480.1:c.*262G>C	ENSP00000504378.1:n.*262G>C
ENST00000677519.1:n.1295G>C
ENST00000677593.1:n.1068G>C
ENST00000677740.1:n.2017G>C
ENST00000677991.1:n.1758G>C
ENST00000678001.1:n.1078G>C
ENST00000678085.1:n.1068G>C
ENST00000678177.1:n.2361G>C
ENST00000678603.1:n.1663G>C
ENST00000678724.1:c.510G>C	ENSP00000503874.1:p.Lys170Asn
ENST00000678920.1:n.743G>C
ENST00000679019.1:n.1282G>C
ENST00000679117.1:c.*400G>C	ENSP00000503240.1:n.*400G>C
ENST00000679339.1:n.1353G>C
ENST00000326739.8:c.585G>C	ENSP00000321584.4:p.Lys195Asn
ENST00000429182.5:c.379G>C
ENST00000442157.1:c.510G>C	ENSP00000403502.1:p.Lys170Asn
ENST00000462980.1:n.487G>C
ENST00000491610.1:n.472G>C
NM_000884.2:c.585G>C	NP_000875.2:p.Lys195Asn
XM_006713128.2:c.795G>C	XP_006713191.1:p.Lys265Asn
XM_006713128.3:c.795G>C	XP_006713191.1:p.Lys265Asn
XM_017006349.1:c.720G>C	XP_016861838.1:p.Lys240Asn
XM_017006350.1:c.720G>C	XP_016861839.1:p.Lys240Asn
NM_000884.3:c.585G>C MANE Select	NP_000875.2:p.Lys195Asn