Canonical Allele Identifier: CA1139768932
Community Standard Title: NM_013382.7(POMT2):c.2167dup (p.Leu723ProfsTer?)
Gene: POMT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77277462dup , CM000676.2:g.77277462dup GRCh38
NC_000014.8:g.77743805dup , CM000676.1:g.77743805dup GRCh37
NC_000014.7:g.76813558dup NCBI36
NG_008897.1:g.48421dup , LRG_844:g.48421dup

Transcript Alleles

HGVS Amino-acid Change
NM_013382.7:c.2167dup MANE Select NP_037514.2:p.Leu723ProfsTer?
ENST00000261534.9:c.2167dup MANE Select ENSP00000261534.4:p.Leu723ProfsTer?
NM_013382.5:c.2167dup , LRG_844t1:c.2167dup NP_037514.2:p.Leu723ProfsTer?
NM_013382.6:c.2167dup NP_037514.2:p.Leu723ProfsTer?
ENST00000261534.8:c.2167dup ENSP00000261534.4:p.Leu723ProfsTer?
ENST00000452340.7:n.3143dup
ENST00000554767.5:n.2953dup
ENST00000555134.2:n.1092dup
ENST00000555710.1:c.528dup ENSP00000451730.1:n.528dup
ENST00000556394.1:c.222dup
ENST00000556394.2:c.1708dup ENSP00000451967.2:p.Leu570ProfsTer?
ENST00000602717.5:c.363-184dup ENSP00000487704.1:n.363-184dup
ENST00000682247.1:c.2156dup ENSP00000507213.1:p.Gly720TrpfsTer20
ENST00000682395.1:n.2631dup
ENST00000682459.1:n.1870dup
ENST00000682467.1:c.2026dup ENSP00000508062.1:p.Leu676ProfsTer?
ENST00000682795.1:c.2314dup ENSP00000507574.1:p.Leu772ProfsTer?
ENST00000682895.1:n.1883dup
ENST00000682897.1:c.20dup
ENST00000682955.1:n.1741dup
ENST00000683188.1:c.2428dup
ENST00000683380.1:n.1831dup
ENST00000683784.1:c.20dup
ENST00000684259.1:n.3934dup
ENST00000684538.1:n.1546dup
ENST00000684549.1:n.1718dup
XM_011536675.1:c.2356dup XP_011534977.1:p.Leu786ProfsTer?
XM_011536675.2:c.2356dup XP_011534977.1:p.Leu786ProfsTer?
XM_011536676.1:c.2023dup XP_011534978.1:p.Leu675ProfsTer?
XM_011536676.2:c.2023dup XP_011534978.1:p.Leu675ProfsTer?
XM_011536677.1:c.1897dup XP_011534979.1:p.Leu633ProfsTer?
XM_011536677.3:c.1897dup XP_011534979.1:p.Leu633ProfsTer?
XM_011536679.1:c.1450dup XP_011534981.1:p.Leu484ProfsTer?
XR_001750279.1:n.2453dup
XR_001750282.1:n.3106dup
XR_943416.1:n.2420dup
XR_943416.3:n.2418dup