Canonical Allele Identifier: CA964935865

Gene: POMT2

Linked Data

• dbSNP Id: rs1891019600
• gnomAD v3: 14-77301098-G-GA
• gnomAD v4: 14-77301098-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77301099dup , CM000676.2:g.77301099dup	GRCh38
NC_000014.8:g.77767442dup , CM000676.1:g.77767442dup	GRCh37
NC_000014.7:g.76837195dup	NCBI36
NG_008897.1:g.24784dup , LRG_844:g.24784dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553863.6:c.260dup	ENSP00000508202.1:n.260dup
ENST00000556394.2:c.358-1538dup	ENSP00000451967.2:n.358-1538dup
ENST00000557289.2:c.151dup
ENST00000682247.1:c.807dup	ENSP00000507213.1:p.Leu270SerfsTer?
ENST00000682382.1:c.496-2328dup
ENST00000682395.1:n.536dup
ENST00000682459.1:n.471dup
ENST00000682467.1:c.807dup	ENSP00000508062.1:p.Leu270SerfsTer?
ENST00000682795.1:c.807dup	ENSP00000507574.1:p.Leu270SerfsTer?
ENST00000682895.1:n.523dup
ENST00000682955.1:n.212-2328dup
ENST00000683167.1:c.151dup
ENST00000683188.1:c.343-1538dup
ENST00000683300.1:c.109+3593dup	ENSP00000507630.1:n.109+3593dup
ENST00000683328.1:c.109+3593dup	ENSP00000508096.1:n.109+3593dup
ENST00000683380.1:n.471dup
ENST00000683398.1:c.151dup
ENST00000683551.1:c.109+1736dup
ENST00000683828.1:c.526-1538dup
ENST00000684259.1:n.658dup
ENST00000684549.1:n.368-1538dup
ENST00000684554.1:c.151dup
ENST00000261534.9:c.807dup MANE Select	ENSP00000261534.4:p.Leu270SerfsTer?
ENST00000261534.8:c.807dup	ENSP00000261534.4:p.Leu270SerfsTer?
ENST00000452340.7:n.830dup
ENST00000553863.5:n.471dup
ENST00000554767.5:n.65dup
ENST00000555675.5:n.523dup
ENST00000556326.5:c.*473dup	ENSP00000450630.1:n.*473dup
ENST00000557289.1:c.56-1538dup	ENSP00000451115.1:n.56-1538dup
NM_013382.5:c.807dup , LRG_844t1:c.807dup	NP_037514.2:p.Leu270SerfsTer?
XM_011536675.1:c.807dup	XP_011534977.1:p.Leu270SerfsTer?
XM_011536676.1:c.474dup	XP_011534978.1:p.Leu159SerfsTer?
XM_011536677.1:c.547+3593dup	XP_011534979.1:n.547+3593dup
XM_011536678.1:c.807dup	XP_011534980.1:p.Leu270SerfsTer?
XM_011536679.1:c.-90-1538dup	XP_011534981.1:n.-90-1538dup
XM_011536680.1:c.807dup	XP_011534982.1:p.Leu270SerfsTer?
XR_943416.1:n.1010dup
XM_011536675.2:c.807dup	XP_011534977.1:p.Leu270SerfsTer?
XM_011536676.2:c.474dup	XP_011534978.1:p.Leu159SerfsTer?
XM_011536677.3:c.547+3593dup	XP_011534979.1:n.547+3593dup
XR_001750279.1:n.1007dup
XR_001750282.1:n.1011dup
XR_943416.3:n.1008dup
NM_013382.6:c.807dup	NP_037514.2:p.Leu270SerfsTer?
NM_013382.7:c.807dup MANE Select	NP_037514.2:p.Leu270SerfsTer?