Canonical Allele Identifier: CA2596253396

Gene: POMT2

Linked Data

• dbSNP Id: rs2139500360
• gnomAD v3: 14-77306248-GCCA-G
• gnomAD v4: 14-77306248-GCCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77306253_77306255del , CM000676.2:g.77306253_77306255del	GRCh38
NC_000014.8:g.77772596_77772598del , CM000676.1:g.77772596_77772598del	GRCh37
NC_000014.7:g.76842349_76842351del	NCBI36
NG_008897.1:g.19632_19634del , LRG_844:g.19632_19634del

Transcript Alleles

HGVS	Amino-acid change
ENST00000555675.6:n.253_255del
ENST00000556394.2:c.249-1451_249-1449del	ENSP00000451967.2:n.249-1451_249-1449del
ENST00000556880.6:n.457_459del
ENST00000682247.1:c.438+86_438+88del	ENSP00000507213.1:n.438+86_438+88del
ENST00000682382.1:c.386+86_386+88del
ENST00000682395.1:n.167+86_167+88del
ENST00000682459.1:n.102+151_102+153del
ENST00000682467.1:c.438+86_438+88del	ENSP00000508062.1:n.438+86_438+88del
ENST00000682795.1:c.438+86_438+88del	ENSP00000507574.1:n.438+86_438+88del
ENST00000682895.1:n.154+86_154+88del
ENST00000682955.1:n.102+151_102+153del
ENST00000683188.1:c.233+86_233+88del
ENST00000683380.1:n.102+151_102+153del
ENST00000683828.1:c.307+86_307+88del
ENST00000684102.1:n.270_272del
ENST00000684259.1:n.289+86_289+88del
ENST00000684479.1:n.105+86_105+88del
ENST00000684549.1:n.253_255del
ENST00000684600.1:c.252+86_252+88del
ENST00000684670.1:n.105+86_105+88del
ENST00000261534.9:c.438+86_438+88del MANE Select	ENSP00000261534.4:n.438+86_438+88del
ENST00000261534.8:c.438+86_438+88del	ENSP00000261534.4:n.438+86_438+88del
ENST00000452340.7:n.461+86_461+88del
ENST00000553863.5:n.102+151_102+153del
ENST00000554948.1:c.165+86_165+88del	ENSP00000452060.1:n.165+86_165+88del
ENST00000555675.5:n.154+86_154+88del
ENST00000555788.5:n.358_360del
ENST00000556326.5:c.*104+86_*104+88del	ENSP00000450630.1:n.*104+86_*104+88del
ENST00000556880.5:n.457_459del
ENST00000557525.1:n.528+86_528+88del
NM_013382.5:c.438+86_438+88del , LRG_844t1:c.438+86_438+88del	NP_037514.2:n.438+86_438+88del
XM_011536675.1:c.438+86_438+88del	XP_011534977.1:n.438+86_438+88del
XM_011536676.1:c.105+86_105+88del	XP_011534978.1:n.105+86_105+88del
XM_011536677.1:c.438+86_438+88del	XP_011534979.1:n.438+86_438+88del
XM_011536678.1:c.438+86_438+88del	XP_011534980.1:n.438+86_438+88del
XM_011536679.1:c.-205_-203del	XP_011534981.1:n.-205_-203del
XM_011536680.1:c.438+86_438+88del	XP_011534982.1:n.438+86_438+88del
XR_943416.1:n.641+86_641+88del
XM_011536675.2:c.438+86_438+88del	XP_011534977.1:n.438+86_438+88del
XM_011536676.2:c.105+86_105+88del	XP_011534978.1:n.105+86_105+88del
XM_011536677.3:c.438+86_438+88del	XP_011534979.1:n.438+86_438+88del
XR_001750279.1:n.638+86_638+88del
XR_001750282.1:n.642+86_642+88del
XR_943416.3:n.639+86_639+88del
NM_013382.6:c.438+86_438+88del	NP_037514.2:n.438+86_438+88del
NM_013382.7:c.438+86_438+88del MANE Select	NP_037514.2:n.438+86_438+88del