Canonical Allele Identifier: CA2148342520

Gene: POMT2

Linked Data

• ClinVar Variation Id: 2075150
• ClinVar RCV Id: RCV002963322
• dbSNP Id: rs1891030471
• gnomAD v4: 14-77301263-AGACG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77301266_77301269del , CM000676.2:g.77301266_77301269del	GRCh38
NC_000014.8:g.77767609_77767612del , CM000676.1:g.77767609_77767612del	GRCh37
NC_000014.7:g.76837362_76837365del	NCBI36
NG_008897.1:g.24616_24619del , LRG_844:g.24616_24619del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553863.6:c.110-18_110-15del	ENSP00000508202.1:n.110-18_110-15del
ENST00000556394.2:c.358-1706_358-1703del	ENSP00000451967.2:n.358-1706_358-1703del
ENST00000556880.6:n.681-18_681-15del
ENST00000682247.1:c.657-18_657-15del	ENSP00000507213.1:n.657-18_657-15del
ENST00000682382.1:c.496-2496_496-2493del
ENST00000682395.1:n.386-18_386-15del
ENST00000682459.1:n.321-18_321-15del
ENST00000682467.1:c.657-18_657-15del	ENSP00000508062.1:n.657-18_657-15del
ENST00000682795.1:c.657-18_657-15del	ENSP00000507574.1:n.657-18_657-15del
ENST00000682895.1:n.373-18_373-15del
ENST00000682955.1:n.212-2496_212-2493del
ENST00000683188.1:c.343-1706_343-1703del
ENST00000683300.1:c.109+3425_109+3428del	ENSP00000507630.1:n.109+3425_109+3428del
ENST00000683328.1:c.109+3425_109+3428del	ENSP00000508096.1:n.109+3425_109+3428del
ENST00000683380.1:n.321-18_321-15del
ENST00000683551.1:c.109+1568_109+1571del
ENST00000683828.1:c.525+1568_525+1571del
ENST00000684259.1:n.508-18_508-15del
ENST00000684549.1:n.368-1706_368-1703del
ENST00000261534.9:c.657-18_657-15del MANE Select	ENSP00000261534.4:n.657-18_657-15del
ENST00000261534.8:c.657-18_657-15del	ENSP00000261534.4:n.657-18_657-15del
ENST00000452340.7:n.680-18_680-15del
ENST00000553863.5:n.321-18_321-15del
ENST00000554948.1:c.384-18_384-15del	ENSP00000452060.1:n.384-18_384-15del
ENST00000555675.5:n.373-18_373-15del
ENST00000556326.5:c.*323-18_*323-15del	ENSP00000450630.1:n.*323-18_*323-15del
ENST00000557289.1:c.56-1706_56-1703del	ENSP00000451115.1:n.56-1706_56-1703del
NM_013382.5:c.657-18_657-15del , LRG_844t1:c.657-18_657-15del	NP_037514.2:n.657-18_657-15del
XM_011536675.1:c.657-18_657-15del	XP_011534977.1:n.657-18_657-15del
XM_011536676.1:c.324-18_324-15del	XP_011534978.1:n.324-18_324-15del
XM_011536677.1:c.547+3425_547+3428del	XP_011534979.1:n.547+3425_547+3428del
XM_011536678.1:c.657-18_657-15del	XP_011534980.1:n.657-18_657-15del
XM_011536679.1:c.-90-1706_-90-1703del	XP_011534981.1:n.-90-1706_-90-1703del
XM_011536680.1:c.657-18_657-15del	XP_011534982.1:n.657-18_657-15del
XR_943416.1:n.860-18_860-15del
XM_011536675.2:c.657-18_657-15del	XP_011534977.1:n.657-18_657-15del
XM_011536676.2:c.324-18_324-15del	XP_011534978.1:n.324-18_324-15del
XM_011536677.3:c.547+3425_547+3428del	XP_011534979.1:n.547+3425_547+3428del
XR_001750279.1:n.857-18_857-15del
XR_001750282.1:n.861-18_861-15del
XR_943416.3:n.858-18_858-15del
NM_013382.6:c.657-18_657-15del	NP_037514.2:n.657-18_657-15del
NM_013382.7:c.657-18_657-15del MANE Select	NP_037514.2:n.657-18_657-15del