Canonical Allele Identifier: CA2148330012

Gene: POMT2

Linked Data

• dbSNP Id: rs1890435148

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286702_77286731del , CM000676.2:g.77286702_77286731del	GRCh38
NC_000014.8:g.77753045_77753074del , CM000676.1:g.77753045_77753074del	GRCh37
NC_000014.7:g.76822798_76822827del	NCBI36
NG_008897.1:g.39152_39181del , LRG_844:g.39152_39181del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.873+13_873+42del	ENSP00000451967.2:n.873+13_873+42del
ENST00000682247.1:c.1332+13_1332+42del	ENSP00000507213.1:n.1332+13_1332+42del
ENST00000682382.1:c.904+13_904+42del
ENST00000682395.1:n.1510+13_1510+42del
ENST00000682459.1:n.1035+13_1035+42del
ENST00000682467.1:c.1332+13_1332+42del	ENSP00000508062.1:n.1332+13_1332+42del
ENST00000682795.1:c.1332+13_1332+42del	ENSP00000507574.1:n.1332+13_1332+42del
ENST00000682895.1:n.1048+13_1048+42del
ENST00000682955.1:n.620+13_620+42del
ENST00000683188.1:c.1307+13_1307+42del
ENST00000683380.1:n.996+13_996+42del
ENST00000683828.1:c.1041+13_1041+42del
ENST00000684259.1:n.1183+13_1183+42del
ENST00000684444.1:c.83+9_83+38del
ENST00000684549.1:n.883+13_883+42del
ENST00000261534.9:c.1332+13_1332+42del MANE Select	ENSP00000261534.4:n.1332+13_1332+42del
ENST00000261534.8:c.1332+13_1332+42del	ENSP00000261534.4:n.1332+13_1332+42del
ENST00000452340.7:n.1355+13_1355+42del
ENST00000553880.5:n.203+13_203+42del
ENST00000554767.5:n.2118+13_2118+42del
ENST00000554884.5:n.324+13_324+42del
ENST00000556404.1:n.466+13_466+42del
ENST00000557675.5:n.422+13_422+42del
NM_013382.5:c.1332+13_1332+42del , LRG_844t1:c.1332+13_1332+42del	NP_037514.2:n.1332+13_1332+42del
XM_011536675.1:c.1332+13_1332+42del	XP_011534977.1:n.1332+13_1332+42del
XM_011536676.1:c.999+13_999+42del	XP_011534978.1:n.999+13_999+42del
XM_011536677.1:c.873+13_873+42del	XP_011534979.1:n.873+13_873+42del
XM_011536678.1:c.1332+13_1332+42del	XP_011534980.1:n.1332+13_1332+42del
XM_011536679.1:c.426+13_426+42del	XP_011534981.1:n.426+13_426+42del
XR_943416.1:n.1535+13_1535+42del
XM_011536675.2:c.1332+13_1332+42del	XP_011534977.1:n.1332+13_1332+42del
XM_011536676.2:c.999+13_999+42del	XP_011534978.1:n.999+13_999+42del
XM_011536677.3:c.873+13_873+42del	XP_011534979.1:n.873+13_873+42del
XR_001750279.1:n.1532+13_1532+42del
XR_001750282.1:n.1985+13_1985+42del
XR_943416.3:n.1533+13_1533+42del
NM_013382.6:c.1332+13_1332+42del	NP_037514.2:n.1332+13_1332+42del
NM_013382.7:c.1332+13_1332+42del MANE Select	NP_037514.2:n.1332+13_1332+42del