Canonical Allele Identifier: CA352739601

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064021T>G (hg19) ; chr3:g.49026588T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026588T>G , CM000665.2:g.49026588T>G	GRCh38
NC_000003.11:g.49064021T>G , CM000665.1:g.49064021T>G	GRCh37
NC_000003.10:g.49039025T>G	NCBI36
NG_012091.1:g.7855A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000703936.1:c.2881A>C	ENSP00000515567.1:p.Ile961Leu
ENST00000703937.1:c.*1942A>C	ENSP00000515568.1:n.*1942A>C
ENST00000326739.9:c.841A>C MANE Select	ENSP00000321584.4:p.Ile281Leu
ENST00000429182.6:c.841A>C	ENSP00000393525.2:p.Ile281Leu
ENST00000442157.2:c.766A>C	ENSP00000403502.2:p.Ile256Leu
ENST00000462980.2:n.1356A>C
ENST00000472328.2:n.907A>C
ENST00000491610.2:n.801A>C
ENST00000676607.1:n.1137A>C
ENST00000676627.1:n.1571A>C
ENST00000676708.1:n.2121A>C
ENST00000676864.1:n.1990A>C
ENST00000677010.1:c.865A>C	ENSP00000503089.1:p.Ile289Leu
ENST00000677108.1:n.2824A>C
ENST00000677168.1:n.1313A>C
ENST00000677185.1:n.1404A>C
ENST00000677205.1:n.1625A>C
ENST00000677344.1:n.2115A>C
ENST00000677480.1:c.*518A>C	ENSP00000504378.1:n.*518A>C
ENST00000677519.1:n.1551A>C
ENST00000677593.1:n.1397A>C
ENST00000677740.1:n.2346A>C
ENST00000677991.1:n.2014A>C
ENST00000678001.1:n.1334A>C
ENST00000678085.1:n.1474A>C
ENST00000678177.1:n.2767A>C
ENST00000678603.1:n.1919A>C
ENST00000678724.1:c.766A>C	ENSP00000503874.1:p.Ile256Leu
ENST00000678920.1:n.999A>C
ENST00000679019.1:n.1688A>C
ENST00000679117.1:c.*656A>C	ENSP00000503240.1:n.*656A>C
ENST00000679339.1:n.1682A>C
ENST00000326739.8:c.841A>C	ENSP00000321584.4:p.Ile281Leu
ENST00000429182.5:c.635A>C
ENST00000442157.1:c.766A>C	ENSP00000403502.1:p.Ile256Leu
ENST00000462980.1:n.743A>C
ENST00000491610.1:n.801A>C
NM_000884.2:c.841A>C	NP_000875.2:p.Ile281Leu
XM_006713128.2:c.1051A>C	XP_006713191.1:p.Ile351Leu
XM_006713128.3:c.1051A>C	XP_006713191.1:p.Ile351Leu
XM_017006349.1:c.976A>C	XP_016861838.1:p.Ile326Leu
XM_017006350.1:c.976A>C	XP_016861839.1:p.Ile326Leu
NM_000884.3:c.841A>C MANE Select	NP_000875.2:p.Ile281Leu