Canonical Allele Identifier: CA390517703
Gene: POMT2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77286779T>C , CM000676.2:g.77286779T>C GRCh38
NC_000014.8:g.77753122T>C , CM000676.1:g.77753122T>C GRCh37
NC_000014.7:g.76822875T>C NCBI36
NG_008897.1:g.39104A>G , LRG_844:g.39104A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000556394.2:c.838A>G ENSP00000451967.2:p.Thr280Ala
ENST00000682247.1:c.1297A>G ENSP00000507213.1:p.Thr433Ala
ENST00000682382.1:c.869A>G
ENST00000682395.1:n.1475A>G
ENST00000682459.1:n.1000A>G
ENST00000682467.1:c.1297A>G ENSP00000508062.1:p.Thr433Ala
ENST00000682706.1:n.74A>G
ENST00000682795.1:c.1297A>G ENSP00000507574.1:p.Thr433Ala
ENST00000682895.1:n.1013A>G
ENST00000682955.1:n.585A>G
ENST00000683188.1:c.1272A>G
ENST00000683328.1:c.290A>G ENSP00000508096.1:n.290A>G
ENST00000683380.1:n.961A>G
ENST00000683828.1:c.1006A>G
ENST00000684259.1:n.1148A>G
ENST00000684444.1:c.44A>G
ENST00000684549.1:n.848A>G
ENST00000261534.9:c.1297A>G MANE Select ENSP00000261534.4:p.Thr433Ala
ENST00000261534.8:c.1297A>G ENSP00000261534.4:p.Thr433Ala
ENST00000452340.7:n.1320A>G
ENST00000553880.5:n.168A>G
ENST00000554767.5:n.2083A>G
ENST00000554884.5:n.289A>G
ENST00000556404.1:n.431A>G
ENST00000556851.1:n.333A>G
ENST00000557675.5:n.387A>G
NM_013382.5:c.1297A>G , LRG_844t1:c.1297A>G NP_037514.2:p.Thr433Ala
XM_011536675.1:c.1297A>G XP_011534977.1:p.Thr433Ala
XM_011536676.1:c.964A>G XP_011534978.1:p.Thr322Ala
XM_011536677.1:c.838A>G XP_011534979.1:p.Thr280Ala
XM_011536678.1:c.1297A>G XP_011534980.1:p.Thr433Ala
XM_011536679.1:c.391A>G XP_011534981.1:p.Thr131Ala
XR_943416.1:n.1500A>G
XM_011536675.2:c.1297A>G XP_011534977.1:p.Thr433Ala
XM_011536676.2:c.964A>G XP_011534978.1:p.Thr322Ala
XM_011536677.3:c.838A>G XP_011534979.1:p.Thr280Ala
XR_001750279.1:n.1497A>G
XR_001750282.1:n.1950A>G
XR_943416.3:n.1498A>G
NM_013382.6:c.1297A>G NP_037514.2:p.Thr433Ala
NM_013382.7:c.1297A>G MANE Select NP_037514.2:p.Thr433Ala