Canonical Allele Identifier: CA2831039476

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278805del , CM000676.2:g.77278805del	GRCh38
NC_000014.8:g.77745148del , CM000676.1:g.77745148del	GRCh37
NC_000014.7:g.76814901del	NCBI36
NG_008897.1:g.47080del , LRG_844:g.47080del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.883del
ENST00000556394.2:c.1499del	ENSP00000451967.2:p.Pro500ArgfsTer4
ENST00000682128.1:c.259del	ENSP00000506976.1:n.259del
ENST00000682247.1:c.1947del	ENSP00000507213.1:p.Val650PhefsTer?
ENST00000682395.1:n.2422del
ENST00000682459.1:n.1661del
ENST00000682467.1:c.1892-295del	ENSP00000508062.1:n.1892-295del
ENST00000682615.1:n.312del
ENST00000682795.1:c.2105del	ENSP00000507574.1:p.Pro702ArgfsTer4
ENST00000682895.1:n.1674del
ENST00000682955.1:n.1532del
ENST00000683095.1:c.364del	ENSP00000508040.1:n.364del
ENST00000683188.1:c.2219del
ENST00000683380.1:n.1622del
ENST00000683828.1:c.1667del
ENST00000683907.1:c.223del	ENSP00000507754.1:p.Arg75ValfsTer?
ENST00000684172.1:c.334del	ENSP00000508391.1:n.334del
ENST00000684259.1:n.3725del
ENST00000684538.1:n.1337del
ENST00000684549.1:n.1509del
ENST00000261534.9:c.1958del MANE Select	ENSP00000261534.4:p.Pro653ArgfsTer4
ENST00000261534.8:c.1958del	ENSP00000261534.4:p.Pro653ArgfsTer4
ENST00000452340.7:n.2934del
ENST00000554767.5:n.2744del
ENST00000555710.1:c.319del	ENSP00000451730.1:n.319del
ENST00000556171.1:c.550del
ENST00000556394.1:c.88-295del
ENST00000556446.1:n.259del
ENST00000602717.5:c.173del	ENSP00000487704.1:p.Pro58ArgfsTer4
NM_013382.5:c.1958del , LRG_844t1:c.1958del	NP_037514.2:p.Pro653ArgfsTer4
XM_011536675.1:c.2147del	XP_011534977.1:p.Pro716ArgfsTer4
XM_011536676.1:c.1814del	XP_011534978.1:p.Pro605ArgfsTer4
XM_011536677.1:c.1688del	XP_011534979.1:p.Pro563ArgfsTer4
XM_011536679.1:c.1241del	XP_011534981.1:p.Pro414ArgfsTer4
XR_943416.1:n.2211del
XM_011536675.2:c.2147del	XP_011534977.1:p.Pro716ArgfsTer4
XM_011536676.2:c.1814del	XP_011534978.1:p.Pro605ArgfsTer4
XM_011536677.3:c.1688del	XP_011534979.1:p.Pro563ArgfsTer4
XR_001750279.1:n.2244del
XR_001750282.1:n.2897del
XR_943416.3:n.2209del
NM_013382.6:c.1958del	NP_037514.2:p.Pro653ArgfsTer4
NM_013382.7:c.1958del MANE Select	NP_037514.2:p.Pro653ArgfsTer4