Canonical Allele Identifier: CA340136723
Community Standard Title: NM_001048174.2(MUTYH):c.116-2A>T
Gene: MUTYH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45333563T>A , CM000663.2:g.45333563T>A GRCh38
NC_000001.10:g.45799235T>A , CM000663.1:g.45799235T>A GRCh37
NC_000001.9:g.45571822T>A NCBI36
NG_008189.1:g.11908A>T , LRG_220:g.11908A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001048174.2:c.116-2A>T MANE Select NP_001041639.1:n.116-2A>T
ENST00000456914.7:c.116-2A>T MANE Select ENSP00000407590.2:n.116-2A>T
NM_001128425.2:c.198A>T MANE Plus Clinical NP_001121897.1:p.Ala66=
ENST00000710952.2:c.198A>T MANE Plus Clinical ENSP00000518552.2:p.Ala66=
NM_001048171.1:c.158-2A>T NP_001041636.1:n.158-2A>T
NM_001048171.2:c.116-2A>T NP_001041636.2:n.116-2A>T
NM_001048172.1:c.117A>T NP_001041637.1:p.Ala39=
NM_001048172.2:c.117A>T NP_001041637.1:p.Ala39=
NM_001048173.1:c.116-2A>T NP_001041638.1:n.116-2A>T
NM_001048173.2:c.116-2A>T NP_001041638.1:n.116-2A>T
NM_001048174.1:c.116-2A>T NP_001041639.1:n.116-2A>T
NM_001128425.1:c.198A>T , LRG_220t1:c.198A>T NP_001121897.1:p.Ala66=
NM_001293190.1:c.159A>T NP_001280119.1:p.Ala53=
NM_001293190.2:c.159A>T NP_001280119.1:p.Ala53=
NM_001293191.1:c.147A>T NP_001280120.1:p.Ala49=
NM_001293191.2:c.147A>T NP_001280120.1:p.Ala49=
NM_001293192.1:c.-97-66A>T NP_001280121.1:n.-97-66A>T
NM_001293192.2:c.-97-66A>T NP_001280121.1:n.-97-66A>T
NM_001293195.1:c.116-2A>T NP_001280124.1:n.116-2A>T
NM_001293195.2:c.116-2A>T NP_001280124.1:n.116-2A>T
NM_001293196.1:c.-97-66A>T NP_001280125.1:n.-97-66A>T
NM_001293196.2:c.-97-66A>T NP_001280125.1:n.-97-66A>T
NM_001350650.1:c.-156-2A>T NP_001337579.1:n.-156-2A>T
NM_001350650.2:c.-156-2A>T NP_001337579.1:n.-156-2A>T
NM_001350651.1:c.-92-66A>T NP_001337580.1:n.-92-66A>T
NM_001350651.2:c.-92-66A>T NP_001337580.1:n.-92-66A>T
NM_012222.2:c.189A>T NP_036354.1:p.Ala63=
NM_012222.3:c.189A>T NP_036354.1:p.Ala63=
NR_146882.1:n.374-2A>T
NR_146882.2:n.344-2A>T
NR_146883.1:n.262-2A>T
NR_146883.2:n.267-2A>T
ENST00000354383.10:c.117A>T ENSP00000346354.6:p.Ala39=
ENST00000355498.6:c.116-2A>T ENSP00000347685.2:n.116-2A>T
ENST00000372098.7:c.189A>T ENSP00000361170.3:p.Ala63=
ENST00000372104.5:c.116-2A>T ENSP00000361176.1:n.116-2A>T
ENST00000372110.7:c.159A>T ENSP00000361182.3:p.Ala53=
ENST00000372115.7:c.158-2A>T ENSP00000361187.3:n.158-2A>T
ENST00000412971.5:c.37-729A>T ENSP00000410263.1:n.37-729A>T
ENST00000412971.6:c.37-729A>T ENSP00000410263.2:n.37-729A>T
ENST00000435155.1:c.147A>T ENSP00000403655.1:p.Ala49=
ENST00000435155.2:c.147A>T ENSP00000403655.2:p.Ala49=
ENST00000448481.5:c.147A>T ENSP00000409718.1:p.Ala49=
ENST00000450313.5:c.198A>T ENSP00000408176.1:p.Ala66=
ENST00000450313.6:c.198A>T ENSP00000408176.2:p.Ala66=
ENST00000456914.6:c.116-2A>T ENSP00000407590.2:n.116-2A>T
ENST00000461495.5:c.158-66A>T ENSP00000437166.1:n.158-66A>T
ENST00000461495.6:c.158-66A>T ENSP00000437166.1:n.158-66A>T
ENST00000462387.5:n.336-239A>T
ENST00000467459.6:c.116-2A>T ENSP00000435889.2:n.116-2A>T
ENST00000467940.5:c.*37A>T ENSP00000436478.1:n.*37A>T
ENST00000470256.5:c.117A>T ENSP00000434985.1:p.Ala39=
ENST00000474703.1:n.269A>T
ENST00000475516.5:c.116-66A>T ENSP00000433843.1:n.116-66A>T
ENST00000476789.5:n.336-2A>T
ENST00000479746.6:n.179-2A>T
ENST00000481139.5:n.319-66A>T
ENST00000481571.5:c.158-66A>T ENSP00000436597.1:n.158-66A>T
ENST00000483127.1:c.134-2A>T ENSP00000436469.1:n.134-2A>T
ENST00000483127.2:c.134-2A>T ENSP00000436469.2:n.134-2A>T
ENST00000483642.5:n.297-2A>T
ENST00000485271.6:c.116-2A>T ENSP00000431264.2:n.116-2A>T
ENST00000485484.5:n.166-2A>T
ENST00000488731.6:c.116-729A>T ENSP00000432330.1:n.116-729A>T
ENST00000492494.5:n.179-2A>T
ENST00000525160.5:c.158-239A>T ENSP00000431568.1:n.158-239A>T
ENST00000528013.6:c.156A>T ENSP00000433130.2:p.Ala52=
ENST00000529892.6:c.158-2A>T ENSP00000432528.2:n.158-2A>T
ENST00000529984.5:c.116-729A>T ENSP00000437093.1:n.116-729A>T
ENST00000531105.5:c.115+828A>T ENSP00000431292.1:n.115+828A>T
ENST00000533178.5:c.121+828A>T ENSP00000436430.1:n.121+828A>T
ENST00000533178.6:c.115+828A>T ENSP00000436430.2:n.115+828A>T
ENST00000671856.1:n.136-2A>T
ENST00000671898.1:c.702A>T ENSP00000499896.1:p.Ala234=
ENST00000672011.1:c.158-2A>T ENSP00000500418.1:n.158-2A>T
ENST00000672314.1:c.116-2A>T ENSP00000500828.1:n.116-2A>T
ENST00000672314.2:c.116-2A>T ENSP00000500828.2:n.116-2A>T
ENST00000672593.1:c.116-66A>T ENSP00000500455.1:n.116-66A>T
ENST00000672764.1:c.147A>T ENSP00000500886.1:p.Ala49=
ENST00000672818.2:c.189A>T ENSP00000500891.1:p.Ala63=
ENST00000672818.3:c.189A>T ENSP00000500891.1:p.Ala63=
ENST00000673134.1:c.116-66A>T ENSP00000500526.1:n.116-66A>T
ENST00000674679.1:c.142A>T ENSP00000501623.1:n.142A>T
ENST00000674679.2:c.*26A>T ENSP00000501623.2:n.*26A>T
XM_011541497.1:c.174A>T XP_011539799.1:p.Ala58=
XM_011541497.3:c.174A>T XP_011539799.1:p.Ala58=
XM_011541498.1:c.156A>T XP_011539800.1:p.Ala52=
XM_011541499.1:c.156A>T XP_011539801.1:p.Ala52=
XM_011541500.1:c.156A>T XP_011539802.1:p.Ala52=
XM_011541500.3:c.156A>T XP_011539802.1:p.Ala52=
XM_011541501.1:c.156A>T XP_011539803.1:p.Ala52=
XM_011541501.2:c.156A>T XP_011539803.1:p.Ala52=
XM_011541502.1:c.156A>T XP_011539804.1:p.Ala52=
XM_011541502.2:c.156A>T XP_011539804.1:p.Ala52=
XM_011541503.1:c.198A>T XP_011539805.1:p.Ala66=
XM_011541503.2:c.198A>T XP_011539805.1:p.Ala66=
XM_011541504.1:c.147A>T XP_011539806.1:p.Ala49=
XM_011541504.2:c.147A>T XP_011539806.1:p.Ala49=
XM_011541505.1:c.43-729A>T XP_011539807.1:n.43-729A>T
XM_011541505.2:c.43-729A>T XP_011539807.1:n.43-729A>T
XM_011541506.1:c.43-729A>T XP_011539808.1:n.43-729A>T
XM_011541506.2:c.43-729A>T XP_011539808.1:n.43-729A>T
XM_017001331.1:c.156A>T XP_016856820.1:p.Ala52=
XM_017001332.1:c.156A>T XP_016856821.1:p.Ala52=
XM_017001333.1:c.156A>T XP_016856822.1:p.Ala52=
XM_017001334.1:c.117A>T XP_016856823.1:p.Ala39=
XM_017001335.1:c.-97-66A>T XP_016856824.1:n.-97-66A>T
XM_017001336.1:c.-158A>T XP_016856825.1:n.-158A>T
XM_017001337.1:c.-158A>T XP_016856826.1:n.-158A>T
XM_024447244.1:c.-158A>T XP_024303012.1:n.-158A>T
XM_024447245.1:c.-158A>T XP_024303013.1:n.-158A>T
XM_024447248.1:c.-156-2A>T XP_024303016.1:n.-156-2A>T
XM_024447249.1:c.-652-2A>T XP_024303017.1:n.-652-2A>T
XM_024447250.1:c.-654A>T XP_024303018.1:n.-654A>T
XM_024447251.1:c.-346-66A>T XP_024303019.1:n.-346-66A>T
XR_001737190.1:n.225-66A>T
XR_001737192.1:n.153-66A>T
XR_002956643.1:n.333-66A>T
XR_002956644.1:n.352A>T
XR_946658.1:n.245A>T
XR_946658.2:n.259A>T
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