Canonical Allele Identifier: CA2148327475

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278455_77278456delinsGC , CM000676.2:g.77278455_77278456delinsGC	GRCh38
NC_000014.8:g.77744798_77744799delinsGC , CM000676.1:g.77744798_77744799delinsGC	GRCh37
NC_000014.7:g.76814551_76814552delinsGC	NCBI36
NG_008897.1:g.47427_47428delinsGC , LRG_844:g.47427_47428delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.1010_1011delinsGC
ENST00000556394.2:c.1626_1627delinsGC	ENSP00000451967.2:p.Trp542=
ENST00000682247.1:c.2074_2075delinsGC	ENSP00000507213.1:p.Ala692=
ENST00000682395.1:n.2549_2550delinsGC
ENST00000682459.1:n.1788_1789delinsGC
ENST00000682467.1:c.1944_1945delinsGC	ENSP00000508062.1:p.Trp648=
ENST00000682795.1:c.2232_2233delinsGC	ENSP00000507574.1:p.Trp744=
ENST00000682895.1:n.1801_1802delinsGC
ENST00000682955.1:n.1659_1660delinsGC
ENST00000683188.1:c.2346_2347delinsGC
ENST00000683380.1:n.1749_1750delinsGC
ENST00000683907.1:c.350_351delinsGC	ENSP00000507754.1:n.350_351delinsGC
ENST00000684259.1:n.3852_3853delinsGC
ENST00000684538.1:n.1464_1465delinsGC
ENST00000684549.1:n.1636_1637delinsGC
ENST00000261534.9:c.2085_2086delinsGC MANE Select	ENSP00000261534.4:p.Trp695=
ENST00000261534.8:c.2085_2086delinsGC	ENSP00000261534.4:p.Trp695=
ENST00000452340.7:n.3061_3062delinsGC
ENST00000554767.5:n.2871_2872delinsGC
ENST00000555710.1:c.446_447delinsGC	ENSP00000451730.1:n.446_447delinsGC
ENST00000556394.1:c.140_141delinsGC
ENST00000556446.1:n.386_387delinsGC
ENST00000602717.5:c.300_301delinsGC	ENSP00000487704.1:p.Trp100=
NM_013382.5:c.2085_2086delinsGC , LRG_844t1:c.2085_2086delinsGC	NP_037514.2:p.Trp695=
XM_011536675.1:c.2274_2275delinsGC	XP_011534977.1:p.Trp758=
XM_011536676.1:c.1941_1942delinsGC	XP_011534978.1:p.Trp647=
XM_011536677.1:c.1815_1816delinsGC	XP_011534979.1:p.Trp605=
XM_011536679.1:c.1368_1369delinsGC	XP_011534981.1:p.Trp456=
XR_943416.1:n.2338_2339delinsGC
XM_011536675.2:c.2274_2275delinsGC	XP_011534977.1:p.Trp758=
XM_011536676.2:c.1941_1942delinsGC	XP_011534978.1:p.Trp647=
XM_011536677.3:c.1815_1816delinsGC	XP_011534979.1:p.Trp605=
XR_001750279.1:n.2371_2372delinsGC
XR_001750282.1:n.3024_3025delinsGC
XR_943416.3:n.2336_2337delinsGC
NM_013382.6:c.2085_2086delinsGC	NP_037514.2:p.Trp695=
NM_013382.7:c.2085_2086delinsGC MANE Select	NP_037514.2:p.Trp695=