Canonical Allele Identifier: CA2997561782

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77302852_77302853del , CM000676.2:g.77302852_77302853del	GRCh38
NC_000014.8:g.77769195_77769196del , CM000676.1:g.77769195_77769196del	GRCh37
NC_000014.7:g.76838948_76838949del	NCBI36
NG_008897.1:g.23031_23032del , LRG_844:g.23031_23032del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553863.6:c.110-1603_110-1602del	ENSP00000508202.1:n.110-1603_110-1602del
ENST00000556394.2:c.357+1840_357+1841del	ENSP00000451967.2:n.357+1840_357+1841del
ENST00000556880.6:n.663_664del
ENST00000682247.1:c.639_640del	ENSP00000507213.1:p.Tyr213Ter
ENST00000682377.1:c.219_220del	ENSP00000507494.1:p.Tyr73Ter
ENST00000682382.1:c.495+1840_495+1841del
ENST00000682395.1:n.368_369del
ENST00000682459.1:n.303_304del
ENST00000682467.1:c.639_640del	ENSP00000508062.1:p.Tyr213Ter
ENST00000682795.1:c.639_640del	ENSP00000507574.1:p.Tyr213Ter
ENST00000682895.1:n.355_356del
ENST00000682955.1:n.211+1840_211+1841del
ENST00000683188.1:c.342+1840_342+1841del
ENST00000683300.1:c.109+1840_109+1841del	ENSP00000507630.1:n.109+1840_109+1841del
ENST00000683328.1:c.109+1840_109+1841del	ENSP00000508096.1:n.109+1840_109+1841del
ENST00000683380.1:n.303_304del
ENST00000683551.1:c.92_93del
ENST00000683828.1:c.508_509del
ENST00000684259.1:n.490_491del
ENST00000684549.1:n.367+1840_367+1841del
ENST00000261534.9:c.639_640del MANE Select	ENSP00000261534.4:p.Tyr213Ter
ENST00000261534.8:c.639_640del	ENSP00000261534.4:p.Tyr213Ter
ENST00000452340.7:n.662_663del
ENST00000553863.5:n.303_304del
ENST00000554948.1:c.366_367del	ENSP00000452060.1:p.Tyr122Ter
ENST00000555675.5:n.355_356del
ENST00000556326.5:c.*305_*306del	ENSP00000450630.1:n.*305_*306del
ENST00000556880.5:n.663_664del
ENST00000557289.1:c.55+1840_55+1841del	ENSP00000451115.1:n.55+1840_55+1841del
NM_013382.5:c.639_640del , LRG_844t1:c.639_640del	NP_037514.2:p.Tyr213Ter
XM_011536675.1:c.639_640del	XP_011534977.1:p.Tyr213Ter
XM_011536676.1:c.306_307del	XP_011534978.1:p.Tyr102Ter
XM_011536677.1:c.547+1840_547+1841del	XP_011534979.1:n.547+1840_547+1841del
XM_011536678.1:c.639_640del	XP_011534980.1:p.Tyr213Ter
XM_011536679.1:c.-91+1840_-91+1841del	XP_011534981.1:n.-91+1840_-91+1841del
XM_011536680.1:c.639_640del	XP_011534982.1:p.Tyr213Ter
XR_943416.1:n.842_843del
XM_011536675.2:c.639_640del	XP_011534977.1:p.Tyr213Ter
XM_011536676.2:c.306_307del	XP_011534978.1:p.Tyr102Ter
XM_011536677.3:c.547+1840_547+1841del	XP_011534979.1:n.547+1840_547+1841del
XR_001750279.1:n.839_840del
XR_001750282.1:n.843_844del
XR_943416.3:n.840_841del
NM_013382.6:c.639_640del	NP_037514.2:p.Tyr213Ter
NM_013382.7:c.639_640del MANE Select	NP_037514.2:p.Tyr213Ter