Canonical Allele Identifier: CA708723984

Gene: POMT2

Linked Data

• dbSNP Id: rs1323887778
• MyVariant Identifiers: chr14:g.77772459_77772460del (hg19) ; chr14:g.77306116_77306117del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77306117_77306118del , CM000676.2:g.77306117_77306118del	GRCh38
NC_000014.8:g.77772460_77772461del , CM000676.1:g.77772460_77772461del	GRCh37
NC_000014.7:g.76842213_76842214del	NCBI36
NG_008897.1:g.19766_19767del , LRG_844:g.19766_19767del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555675.6:n.387_388del
ENST00000556394.2:c.249-1317_249-1316del	ENSP00000451967.2:n.249-1317_249-1316del
ENST00000556880.6:n.462+129_462+130del
ENST00000682247.1:c.438+220_438+221del	ENSP00000507213.1:n.438+220_438+221del
ENST00000682382.1:c.386+220_386+221del
ENST00000682395.1:n.167+220_167+221del
ENST00000682459.1:n.102+285_102+286del
ENST00000682467.1:c.438+220_438+221del	ENSP00000508062.1:n.438+220_438+221del
ENST00000682795.1:c.438+220_438+221del	ENSP00000507574.1:n.438+220_438+221del
ENST00000682895.1:n.154+220_154+221del
ENST00000682955.1:n.102+285_102+286del
ENST00000683188.1:c.233+220_233+221del
ENST00000683380.1:n.102+285_102+286del
ENST00000683828.1:c.307+220_307+221del
ENST00000684102.1:n.404_405del
ENST00000684259.1:n.289+220_289+221del
ENST00000684479.1:n.105+220_105+221del
ENST00000684549.1:n.258+129_258+130del
ENST00000684600.1:c.252+220_252+221del
ENST00000684670.1:n.105+220_105+221del
ENST00000261534.9:c.438+220_438+221del MANE Select	ENSP00000261534.4:n.438+220_438+221del
ENST00000261534.8:c.438+220_438+221del	ENSP00000261534.4:n.438+220_438+221del
ENST00000452340.7:n.461+220_461+221del
ENST00000553863.5:n.102+285_102+286del
ENST00000554948.1:c.165+220_165+221del	ENSP00000452060.1:n.165+220_165+221del
ENST00000555675.5:n.154+220_154+221del
ENST00000555788.5:n.363+129_363+130del
ENST00000556326.5:c.*104+220_*104+221del	ENSP00000450630.1:n.*104+220_*104+221del
ENST00000556880.5:n.462+129_462+130del
ENST00000557525.1:n.528+220_528+221del
NM_013382.5:c.438+220_438+221del , LRG_844t1:c.438+220_438+221del	NP_037514.2:n.438+220_438+221del
XM_011536675.1:c.438+220_438+221del	XP_011534977.1:n.438+220_438+221del
XM_011536676.1:c.105+220_105+221del	XP_011534978.1:n.105+220_105+221del
XM_011536677.1:c.438+220_438+221del	XP_011534979.1:n.438+220_438+221del
XM_011536678.1:c.438+220_438+221del	XP_011534980.1:n.438+220_438+221del
XM_011536679.1:c.-200+129_-200+130del	XP_011534981.1:n.-200+129_-200+130del
XM_011536680.1:c.438+220_438+221del	XP_011534982.1:n.438+220_438+221del
XR_943416.1:n.641+220_641+221del
XM_011536675.2:c.438+220_438+221del	XP_011534977.1:n.438+220_438+221del
XM_011536676.2:c.105+220_105+221del	XP_011534978.1:n.105+220_105+221del
XM_011536677.3:c.438+220_438+221del	XP_011534979.1:n.438+220_438+221del
XR_001750279.1:n.638+220_638+221del
XR_001750282.1:n.642+220_642+221del
XR_943416.3:n.639+220_639+221del
NM_013382.6:c.438+220_438+221del	NP_037514.2:n.438+220_438+221del
NM_013382.7:c.438+220_438+221del MANE Select	NP_037514.2:n.438+220_438+221del