Canonical Allele Identifier: CA2838661015

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278781dup , CM000676.2:g.77278781dup	GRCh38
NC_000014.8:g.77745124dup , CM000676.1:g.77745124dup	GRCh37
NC_000014.7:g.76814877dup	NCBI36
NG_008897.1:g.47103dup , LRG_844:g.47103dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.906dup
ENST00000556394.2:c.1522dup	ENSP00000451967.2:p.Leu508ProfsTer?
ENST00000682128.1:c.282dup	ENSP00000506976.1:n.282dup
ENST00000682247.1:c.1970dup	ENSP00000507213.1:p.Leu658SerfsTer16
ENST00000682395.1:n.2445dup
ENST00000682459.1:n.1684dup
ENST00000682467.1:c.1892-272dup	ENSP00000508062.1:n.1892-272dup
ENST00000682615.1:n.335dup
ENST00000682795.1:c.2128dup	ENSP00000507574.1:p.Leu710ProfsTer?
ENST00000682895.1:n.1697dup
ENST00000682955.1:n.1555dup
ENST00000683095.1:c.387dup	ENSP00000508040.1:n.387dup
ENST00000683188.1:c.2242dup
ENST00000683380.1:n.1645dup
ENST00000683907.1:c.246dup	ENSP00000507754.1:n.246dup
ENST00000684172.1:c.357dup	ENSP00000508391.1:n.357dup
ENST00000684259.1:n.3748dup
ENST00000684538.1:n.1360dup
ENST00000684549.1:n.1532dup
ENST00000261534.9:c.1981dup MANE Select	ENSP00000261534.4:p.Leu661ProfsTer?
ENST00000261534.8:c.1981dup	ENSP00000261534.4:p.Leu661ProfsTer?
ENST00000452340.7:n.2957dup
ENST00000554767.5:n.2767dup
ENST00000555710.1:c.342dup	ENSP00000451730.1:n.342dup
ENST00000556171.1:c.573dup
ENST00000556394.1:c.88-272dup
ENST00000556446.1:n.282dup
ENST00000602717.5:c.196dup	ENSP00000487704.1:p.Leu66ProfsTer?
NM_013382.5:c.1981dup , LRG_844t1:c.1981dup	NP_037514.2:p.Leu661ProfsTer?
XM_011536675.1:c.2170dup	XP_011534977.1:p.Leu724ProfsTer?
XM_011536676.1:c.1837dup	XP_011534978.1:p.Leu613ProfsTer?
XM_011536677.1:c.1711dup	XP_011534979.1:p.Leu571ProfsTer?
XM_011536679.1:c.1264dup	XP_011534981.1:p.Leu422ProfsTer?
XR_943416.1:n.2234dup
XM_011536675.2:c.2170dup	XP_011534977.1:p.Leu724ProfsTer?
XM_011536676.2:c.1837dup	XP_011534978.1:p.Leu613ProfsTer?
XM_011536677.3:c.1711dup	XP_011534979.1:p.Leu571ProfsTer?
XR_001750279.1:n.2267dup
XR_001750282.1:n.2920dup
XR_943416.3:n.2232dup
NM_013382.6:c.1981dup	NP_037514.2:p.Leu661ProfsTer?
NM_013382.7:c.1981dup MANE Select	NP_037514.2:p.Leu661ProfsTer?