Canonical Allele Identifier: CA2148328866

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77306337_77306338delinsTC , CM000676.2:g.77306337_77306338delinsTC	GRCh38
NC_000014.8:g.77772680_77772681delinsTC , CM000676.1:g.77772680_77772681delinsTC	GRCh37
NC_000014.7:g.76842433_76842434delinsTC	NCBI36
NG_008897.1:g.19545_19546delinsGA , LRG_844:g.19545_19546delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555675.6:n.166_167delinsGA
ENST00000556394.2:c.249-1538_249-1537delinsGA	ENSP00000451967.2:n.249-1538_249-1537delinsGA
ENST00000556880.6:n.370_371delinsGA
ENST00000682247.1:c.437_438delinsGA	ENSP00000507213.1:p.Gly146=
ENST00000682382.1:c.385_386delinsGA
ENST00000682395.1:n.166_167delinsGA
ENST00000682459.1:n.102+64_102+65delinsGA
ENST00000682467.1:c.437_438delinsGA	ENSP00000508062.1:p.Gly146=
ENST00000682795.1:c.437_438delinsGA	ENSP00000507574.1:p.Gly146=
ENST00000682895.1:n.153_154delinsGA
ENST00000682955.1:n.102+64_102+65delinsGA
ENST00000683188.1:c.232_233delinsGA
ENST00000683380.1:n.102+64_102+65delinsGA
ENST00000683828.1:c.306_307delinsGA
ENST00000684066.1:n.132_133delinsGA
ENST00000684102.1:n.183_184delinsGA
ENST00000684259.1:n.288_289delinsGA
ENST00000684479.1:n.104_105delinsGA
ENST00000684549.1:n.166_167delinsGA
ENST00000684600.1:c.251_252delinsGA
ENST00000684670.1:n.104_105delinsGA
ENST00000684746.1:n.134_135delinsGA
ENST00000261534.9:c.437_438delinsGA MANE Select	ENSP00000261534.4:p.Gly146=
ENST00000261534.8:c.437_438delinsGA	ENSP00000261534.4:p.Gly146=
ENST00000452340.7:n.460_461delinsGA
ENST00000553863.5:n.102+64_102+65delinsGA
ENST00000554948.1:c.164_165delinsGA	ENSP00000452060.1:p.Gly55=
ENST00000555675.5:n.153_154delinsGA
ENST00000555788.5:n.271_272delinsGA
ENST00000556326.5:c.*103_*104delinsGA	ENSP00000450630.1:n.*103_*104delinsGA
ENST00000556880.5:n.370_371delinsGA
ENST00000557525.1:n.527_528delinsGA
NM_013382.5:c.437_438delinsGA , LRG_844t1:c.437_438delinsGA	NP_037514.2:p.Gly146=
XM_011536675.1:c.437_438delinsGA	XP_011534977.1:p.Gly146=
XM_011536676.1:c.104_105delinsGA	XP_011534978.1:p.Gly35=
XM_011536677.1:c.437_438delinsGA	XP_011534979.1:p.Gly146=
XM_011536678.1:c.437_438delinsGA	XP_011534980.1:p.Gly146=
XM_011536680.1:c.437_438delinsGA	XP_011534982.1:p.Gly146=
XR_943416.1:n.640_641delinsGA
XM_011536675.2:c.437_438delinsGA	XP_011534977.1:p.Gly146=
XM_011536676.2:c.104_105delinsGA	XP_011534978.1:p.Gly35=
XM_011536677.3:c.437_438delinsGA	XP_011534979.1:p.Gly146=
XR_001750279.1:n.637_638delinsGA
XR_001750282.1:n.641_642delinsGA
XR_943416.3:n.638_639delinsGA
NM_013382.6:c.437_438delinsGA	NP_037514.2:p.Gly146=
NM_013382.7:c.437_438delinsGA MANE Select	NP_037514.2:p.Gly146=