Canonical Allele Identifier: CA2575587531
Gene: POMT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77278495dup , CM000676.2:g.77278495dup GRCh38
NC_000014.8:g.77744838dup , CM000676.1:g.77744838dup GRCh37
NC_000014.7:g.76814591dup NCBI36
NG_008897.1:g.47388dup , LRG_844:g.47388dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000555134.2:n.971dup
ENST00000556394.2:c.1587dup ENSP00000451967.2:p.Thr530HisfsTer?
ENST00000682247.1:c.2035dup ENSP00000507213.1:p.His679ProfsTer26
ENST00000682395.1:n.2510dup
ENST00000682459.1:n.1749dup
ENST00000682467.1:c.1905dup ENSP00000508062.1:p.Thr636HisfsTer?
ENST00000682795.1:c.2193dup ENSP00000507574.1:p.Thr732HisfsTer?
ENST00000682895.1:n.1762dup
ENST00000682955.1:n.1620dup
ENST00000683188.1:c.2307dup
ENST00000683380.1:n.1710dup
ENST00000683907.1:c.311dup ENSP00000507754.1:n.311dup
ENST00000684259.1:n.3813dup
ENST00000684538.1:n.1425dup
ENST00000684549.1:n.1597dup
ENST00000261534.9:c.2046dup MANE Select ENSP00000261534.4:p.Thr683HisfsTer?
ENST00000261534.8:c.2046dup ENSP00000261534.4:p.Thr683HisfsTer?
ENST00000452340.7:n.3022dup
ENST00000554767.5:n.2832dup
ENST00000555710.1:c.407dup ENSP00000451730.1:n.407dup
ENST00000556394.1:c.101dup
ENST00000556446.1:n.347dup
ENST00000602717.5:c.261dup ENSP00000487704.1:p.Thr88HisfsTer?
NM_013382.5:c.2046dup , LRG_844t1:c.2046dup NP_037514.2:p.Thr683HisfsTer?
XM_011536675.1:c.2235dup XP_011534977.1:p.Thr746HisfsTer?
XM_011536676.1:c.1902dup XP_011534978.1:p.Thr635HisfsTer?
XM_011536677.1:c.1776dup XP_011534979.1:p.Thr593HisfsTer?
XM_011536679.1:c.1329dup XP_011534981.1:p.Thr444HisfsTer?
XR_943416.1:n.2299dup
XM_011536675.2:c.2235dup XP_011534977.1:p.Thr746HisfsTer?
XM_011536676.2:c.1902dup XP_011534978.1:p.Thr635HisfsTer?
XM_011536677.3:c.1776dup XP_011534979.1:p.Thr593HisfsTer?
XR_001750279.1:n.2332dup
XR_001750282.1:n.2985dup
XR_943416.3:n.2297dup
NM_013382.6:c.2046dup NP_037514.2:p.Thr683HisfsTer?
NM_013382.7:c.2046dup MANE Select NP_037514.2:p.Thr683HisfsTer?