Canonical Allele Identifier: CA915946332

Gene: POMT2

Linked Data

• ClinVar Variation Id: 652452
• ClinVar RCV Id: RCV000808004 ; RCV003472397
• dbSNP Id: rs1594794303

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77298685_77298688del , CM000676.2:g.77298685_77298688del	GRCh38
NC_000014.8:g.77765028_77765031del , CM000676.1:g.77765028_77765031del	GRCh37
NC_000014.7:g.76834781_76834784del	NCBI36
NG_008897.1:g.27198_27201del , LRG_844:g.27198_27201del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.547+4_547+7del	ENSP00000451967.2:n.547+4_547+7del
ENST00000557289.2:c.304+4_304+7del
ENST00000682247.1:c.1006+4_1006+7del	ENSP00000507213.1:n.1006+4_1006+7del
ENST00000682382.1:c.578+4_578+7del
ENST00000682395.1:n.735+4_735+7del
ENST00000682459.1:n.670+4_670+7del
ENST00000682467.1:c.1006+4_1006+7del	ENSP00000508062.1:n.1006+4_1006+7del
ENST00000682795.1:c.1006+4_1006+7del	ENSP00000507574.1:n.1006+4_1006+7del
ENST00000682895.1:n.722+4_722+7del
ENST00000682955.1:n.294+4_294+7del
ENST00000683188.1:c.532+4_532+7del
ENST00000683300.1:c.110-2412_110-2409del	ENSP00000507630.1:n.110-2412_110-2409del
ENST00000683328.1:c.109+6007_109+6010del	ENSP00000508096.1:n.109+6007_109+6010del
ENST00000683380.1:n.670+4_670+7del
ENST00000683828.1:c.715+4_715+7del
ENST00000684259.1:n.857+4_857+7del
ENST00000684549.1:n.557+4_557+7del
ENST00000684554.1:c.243+4_243+7del
ENST00000261534.9:c.1006+4_1006+7del MANE Select	ENSP00000261534.4:n.1006+4_1006+7del
ENST00000261534.8:c.1006+4_1006+7del	ENSP00000261534.4:n.1006+4_1006+7del
ENST00000452340.7:n.1029+4_1029+7del
ENST00000554767.5:n.1792+4_1792+7del
ENST00000557289.1:c.245+4_245+7del	ENSP00000451115.1:n.245+4_245+7del
NM_013382.5:c.1006+4_1006+7del , LRG_844t1:c.1006+4_1006+7del	NP_037514.2:n.1006+4_1006+7del
XM_011536675.1:c.1006+4_1006+7del	XP_011534977.1:n.1006+4_1006+7del
XM_011536676.1:c.673+4_673+7del	XP_011534978.1:n.673+4_673+7del
XM_011536677.1:c.548-2412_548-2409del	XP_011534979.1:n.548-2412_548-2409del
XM_011536678.1:c.1006+4_1006+7del	XP_011534980.1:n.1006+4_1006+7del
XM_011536679.1:c.100+4_100+7del	XP_011534981.1:n.100+4_100+7del
XM_011536680.1:c.1006+4_1006+7del	XP_011534982.1:n.1006+4_1006+7del
XR_943416.1:n.1209+4_1209+7del
XM_011536675.2:c.1006+4_1006+7del	XP_011534977.1:n.1006+4_1006+7del
XM_011536676.2:c.673+4_673+7del	XP_011534978.1:n.673+4_673+7del
XM_011536677.3:c.548-2412_548-2409del	XP_011534979.1:n.548-2412_548-2409del
XR_001750279.1:n.1206+4_1206+7del
XR_001750282.1:n.1210+4_1210+7del
XR_943416.3:n.1207+4_1207+7del
NM_013382.6:c.1006+4_1006+7del	NP_037514.2:n.1006+4_1006+7del
NM_013382.7:c.1006+4_1006+7del MANE Select	NP_037514.2:n.1006+4_1006+7del