Canonical Allele Identifier: CA390517640
Gene: POMT2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77286748C>G , CM000676.2:g.77286748C>G GRCh38
NC_000014.8:g.77753091C>G , CM000676.1:g.77753091C>G GRCh37
NC_000014.7:g.76822844C>G NCBI36
NG_008897.1:g.39135G>C , LRG_844:g.39135G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000556394.2:c.869G>C ENSP00000451967.2:p.Gly290Ala
ENST00000682247.1:c.1328G>C ENSP00000507213.1:p.Gly443Ala
ENST00000682382.1:c.900G>C
ENST00000682395.1:n.1506G>C
ENST00000682459.1:n.1031G>C
ENST00000682467.1:c.1328G>C ENSP00000508062.1:p.Gly443Ala
ENST00000682706.1:n.105G>C
ENST00000682795.1:c.1328G>C ENSP00000507574.1:p.Gly443Ala
ENST00000682895.1:n.1044G>C
ENST00000682955.1:n.616G>C
ENST00000683188.1:c.1303G>C
ENST00000683328.1:c.321G>C ENSP00000508096.1:n.321G>C
ENST00000683380.1:n.992G>C
ENST00000683828.1:c.1037G>C
ENST00000684259.1:n.1179G>C
ENST00000684444.1:c.75G>C
ENST00000684549.1:n.879G>C
ENST00000261534.9:c.1328G>C MANE Select ENSP00000261534.4:p.Gly443Ala
ENST00000261534.8:c.1328G>C ENSP00000261534.4:p.Gly443Ala
ENST00000452340.7:n.1351G>C
ENST00000553880.5:n.199G>C
ENST00000554767.5:n.2114G>C
ENST00000554884.5:n.320G>C
ENST00000556404.1:n.462G>C
ENST00000556851.1:n.364G>C
ENST00000557675.5:n.418G>C
NM_013382.5:c.1328G>C , LRG_844t1:c.1328G>C NP_037514.2:p.Gly443Ala
XM_011536675.1:c.1328G>C XP_011534977.1:p.Gly443Ala
XM_011536676.1:c.995G>C XP_011534978.1:p.Gly332Ala
XM_011536677.1:c.869G>C XP_011534979.1:p.Gly290Ala
XM_011536678.1:c.1328G>C XP_011534980.1:p.Gly443Ala
XM_011536679.1:c.422G>C XP_011534981.1:p.Gly141Ala
XR_943416.1:n.1531G>C
XM_011536675.2:c.1328G>C XP_011534977.1:p.Gly443Ala
XM_011536676.2:c.995G>C XP_011534978.1:p.Gly332Ala
XM_011536677.3:c.869G>C XP_011534979.1:p.Gly290Ala
XR_001750279.1:n.1528G>C
XR_001750282.1:n.1981G>C
XR_943416.3:n.1529G>C
NM_013382.6:c.1328G>C NP_037514.2:p.Gly443Ala
NM_013382.7:c.1328G>C MANE Select NP_037514.2:p.Gly443Ala