Canonical Allele Identifier: CA2802241215

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286554_77286557del , CM000676.2:g.77286554_77286557del	GRCh38
NC_000014.8:g.77752897_77752900del , CM000676.1:g.77752897_77752900del	GRCh37
NC_000014.7:g.76822650_76822653del	NCBI36
NG_008897.1:g.39329_39332del , LRG_844:g.39329_39332del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.873+190_873+193del	ENSP00000451967.2:n.873+190_873+193del
ENST00000682247.1:c.1332+190_1332+193del	ENSP00000507213.1:n.1332+190_1332+193del
ENST00000682382.1:c.904+190_904+193del
ENST00000682395.1:n.1510+190_1510+193del
ENST00000682459.1:n.1035+190_1035+193del
ENST00000682467.1:c.1332+190_1332+193del	ENSP00000508062.1:n.1332+190_1332+193del
ENST00000682795.1:c.1332+190_1332+193del	ENSP00000507574.1:n.1332+190_1332+193del
ENST00000682895.1:n.1048+190_1048+193del
ENST00000682955.1:n.620+190_620+193del
ENST00000683188.1:c.1307+190_1307+193del
ENST00000683380.1:n.996+190_996+193del
ENST00000683828.1:c.1041+190_1041+193del
ENST00000684259.1:n.1183+190_1183+193del
ENST00000684444.1:c.83+186_83+189del
ENST00000684549.1:n.883+190_883+193del
ENST00000261534.9:c.1332+190_1332+193del MANE Select	ENSP00000261534.4:n.1332+190_1332+193del
ENST00000261534.8:c.1332+190_1332+193del	ENSP00000261534.4:n.1332+190_1332+193del
ENST00000452340.7:n.1355+190_1355+193del
ENST00000553880.5:n.203+190_203+193del
ENST00000554767.5:n.2118+190_2118+193del
ENST00000554884.5:n.324+190_324+193del
ENST00000556404.1:n.466+190_466+193del
ENST00000557675.5:n.422+190_422+193del
NM_013382.5:c.1332+190_1332+193del , LRG_844t1:c.1332+190_1332+193del	NP_037514.2:n.1332+190_1332+193del
XM_011536675.1:c.1332+190_1332+193del	XP_011534977.1:n.1332+190_1332+193del
XM_011536676.1:c.999+190_999+193del	XP_011534978.1:n.999+190_999+193del
XM_011536677.1:c.873+190_873+193del	XP_011534979.1:n.873+190_873+193del
XM_011536678.1:c.1332+190_1332+193del	XP_011534980.1:n.1332+190_1332+193del
XM_011536679.1:c.426+190_426+193del	XP_011534981.1:n.426+190_426+193del
XR_943416.1:n.1535+190_1535+193del
XM_011536675.2:c.1332+190_1332+193del	XP_011534977.1:n.1332+190_1332+193del
XM_011536676.2:c.999+190_999+193del	XP_011534978.1:n.999+190_999+193del
XM_011536677.3:c.873+190_873+193del	XP_011534979.1:n.873+190_873+193del
XR_001750279.1:n.1532+190_1532+193del
XR_001750282.1:n.1985+190_1985+193del
XR_943416.3:n.1533+190_1533+193del
NM_013382.6:c.1332+190_1332+193del	NP_037514.2:n.1332+190_1332+193del
NM_013382.7:c.1332+190_1332+193del MANE Select	NP_037514.2:n.1332+190_1332+193del