Canonical Allele Identifier: CA390519678
Gene: POMT2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77298697A>G , CM000676.2:g.77298697A>G GRCh38
NC_000014.8:g.77765040A>G , CM000676.1:g.77765040A>G GRCh37
NC_000014.7:g.76834793A>G NCBI36
NG_008897.1:g.27186T>C , LRG_844:g.27186T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000556394.2:c.539T>C ENSP00000451967.2:p.Ile180Thr
ENST00000557289.2:c.296T>C
ENST00000682247.1:c.998T>C ENSP00000507213.1:p.Ile333Thr
ENST00000682382.1:c.570T>C
ENST00000682395.1:n.727T>C
ENST00000682459.1:n.662T>C
ENST00000682467.1:c.998T>C ENSP00000508062.1:p.Ile333Thr
ENST00000682795.1:c.998T>C ENSP00000507574.1:p.Ile333Thr
ENST00000682895.1:n.714T>C
ENST00000682955.1:n.286T>C
ENST00000683188.1:c.524T>C
ENST00000683300.1:c.110-2424T>C ENSP00000507630.1:n.110-2424T>C
ENST00000683328.1:c.109+5995T>C ENSP00000508096.1:n.109+5995T>C
ENST00000683380.1:n.662T>C
ENST00000683551.1:c.184T>C
ENST00000683828.1:c.707T>C
ENST00000684259.1:n.849T>C
ENST00000684549.1:n.549T>C
ENST00000684554.1:c.235T>C
ENST00000261534.9:c.998T>C MANE Select ENSP00000261534.4:p.Ile333Thr
ENST00000261534.8:c.998T>C ENSP00000261534.4:p.Ile333Thr
ENST00000452340.7:n.1021T>C
ENST00000554767.5:n.1784T>C
ENST00000557289.1:c.237T>C ENSP00000451115.1:n.237T>C
NM_013382.5:c.998T>C , LRG_844t1:c.998T>C NP_037514.2:p.Ile333Thr
XM_011536675.1:c.998T>C XP_011534977.1:p.Ile333Thr
XM_011536676.1:c.665T>C XP_011534978.1:p.Ile222Thr
XM_011536677.1:c.548-2424T>C XP_011534979.1:n.548-2424T>C
XM_011536678.1:c.998T>C XP_011534980.1:p.Ile333Thr
XM_011536679.1:c.92T>C XP_011534981.1:p.Ile31Thr
XM_011536680.1:c.998T>C XP_011534982.1:p.Ile333Thr
XR_943416.1:n.1201T>C
XM_011536675.2:c.998T>C XP_011534977.1:p.Ile333Thr
XM_011536676.2:c.665T>C XP_011534978.1:p.Ile222Thr
XM_011536677.3:c.548-2424T>C XP_011534979.1:n.548-2424T>C
XR_001750279.1:n.1198T>C
XR_001750282.1:n.1202T>C
XR_943416.3:n.1199T>C
NM_013382.6:c.998T>C NP_037514.2:p.Ile333Thr
NM_013382.7:c.998T>C MANE Select NP_037514.2:p.Ile333Thr