Canonical Allele Identifier: CA2148328766

Gene: POMT2

Linked Data

• dbSNP Id: rs1891223061
• gnomAD v3: 14-77306200-GATC-G
• gnomAD v4: 14-77306200-GATC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77306204_77306206del , CM000676.2:g.77306204_77306206del	GRCh38
NC_000014.8:g.77772547_77772549del , CM000676.1:g.77772547_77772549del	GRCh37
NC_000014.7:g.76842300_76842302del	NCBI36
NG_008897.1:g.19680_19682del , LRG_844:g.19680_19682del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555675.6:n.301_303del
ENST00000556394.2:c.249-1403_249-1401del	ENSP00000451967.2:n.249-1403_249-1401del
ENST00000556880.6:n.462+43_462+45del
ENST00000682247.1:c.438+134_438+136del	ENSP00000507213.1:n.438+134_438+136del
ENST00000682382.1:c.386+134_386+136del
ENST00000682395.1:n.167+134_167+136del
ENST00000682459.1:n.102+199_102+201del
ENST00000682467.1:c.438+134_438+136del	ENSP00000508062.1:n.438+134_438+136del
ENST00000682795.1:c.438+134_438+136del	ENSP00000507574.1:n.438+134_438+136del
ENST00000682895.1:n.154+134_154+136del
ENST00000682955.1:n.102+199_102+201del
ENST00000683188.1:c.233+134_233+136del
ENST00000683380.1:n.102+199_102+201del
ENST00000683828.1:c.307+134_307+136del
ENST00000684102.1:n.318_320del
ENST00000684259.1:n.289+134_289+136del
ENST00000684479.1:n.105+134_105+136del
ENST00000684549.1:n.258+43_258+45del
ENST00000684600.1:c.252+134_252+136del
ENST00000684670.1:n.105+134_105+136del
ENST00000261534.9:c.438+134_438+136del MANE Select	ENSP00000261534.4:n.438+134_438+136del
ENST00000261534.8:c.438+134_438+136del	ENSP00000261534.4:n.438+134_438+136del
ENST00000452340.7:n.461+134_461+136del
ENST00000553863.5:n.102+199_102+201del
ENST00000554948.1:c.165+134_165+136del	ENSP00000452060.1:n.165+134_165+136del
ENST00000555675.5:n.154+134_154+136del
ENST00000555788.5:n.363+43_363+45del
ENST00000556326.5:c.*104+134_*104+136del	ENSP00000450630.1:n.*104+134_*104+136del
ENST00000556880.5:n.462+43_462+45del
ENST00000557525.1:n.528+134_528+136del
NM_013382.5:c.438+134_438+136del , LRG_844t1:c.438+134_438+136del	NP_037514.2:n.438+134_438+136del
XM_011536675.1:c.438+134_438+136del	XP_011534977.1:n.438+134_438+136del
XM_011536676.1:c.105+134_105+136del	XP_011534978.1:n.105+134_105+136del
XM_011536677.1:c.438+134_438+136del	XP_011534979.1:n.438+134_438+136del
XM_011536678.1:c.438+134_438+136del	XP_011534980.1:n.438+134_438+136del
XM_011536679.1:c.-200+43_-200+45del	XP_011534981.1:n.-200+43_-200+45del
XM_011536680.1:c.438+134_438+136del	XP_011534982.1:n.438+134_438+136del
XR_943416.1:n.641+134_641+136del
XM_011536675.2:c.438+134_438+136del	XP_011534977.1:n.438+134_438+136del
XM_011536676.2:c.105+134_105+136del	XP_011534978.1:n.105+134_105+136del
XM_011536677.3:c.438+134_438+136del	XP_011534979.1:n.438+134_438+136del
XR_001750279.1:n.638+134_638+136del
XR_001750282.1:n.642+134_642+136del
XR_943416.3:n.639+134_639+136del
NM_013382.6:c.438+134_438+136del	NP_037514.2:n.438+134_438+136del
NM_013382.7:c.438+134_438+136del MANE Select	NP_037514.2:n.438+134_438+136del