Canonical Allele Identifier: CA2580088830

Gene: POMT2

Linked Data

• ClinVar Variation Id: 2033046
• ClinVar RCV Id: RCV002881630

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278781del , CM000676.2:g.77278781del	GRCh38
NC_000014.8:g.77745124del , CM000676.1:g.77745124del	GRCh37
NC_000014.7:g.76814877del	NCBI36
NG_008897.1:g.47103del , LRG_844:g.47103del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.906del
ENST00000556394.2:c.1522del	ENSP00000451967.2:p.Leu508SerfsTer16
ENST00000682128.1:c.282del	ENSP00000506976.1:n.282del
ENST00000682247.1:c.1970del	ENSP00000507213.1:p.Pro657LeufsTer?
ENST00000682395.1:n.2445del
ENST00000682459.1:n.1684del
ENST00000682467.1:c.1892-272del	ENSP00000508062.1:n.1892-272del
ENST00000682615.1:n.335del
ENST00000682795.1:c.2128del	ENSP00000507574.1:p.Leu710SerfsTer16
ENST00000682895.1:n.1697del
ENST00000682955.1:n.1555del
ENST00000683095.1:c.387del	ENSP00000508040.1:n.387del
ENST00000683188.1:c.2242del
ENST00000683380.1:n.1645del
ENST00000683907.1:c.246del	ENSP00000507754.1:n.246del
ENST00000684172.1:c.357del	ENSP00000508391.1:n.357del
ENST00000684259.1:n.3748del
ENST00000684538.1:n.1360del
ENST00000684549.1:n.1532del
ENST00000261534.9:c.1981del MANE Select	ENSP00000261534.4:p.Leu661SerfsTer16
ENST00000261534.8:c.1981del	ENSP00000261534.4:p.Leu661SerfsTer16
ENST00000452340.7:n.2957del
ENST00000554767.5:n.2767del
ENST00000555710.1:c.342del	ENSP00000451730.1:n.342del
ENST00000556171.1:c.573del
ENST00000556394.1:c.88-272del
ENST00000556446.1:n.282del
ENST00000602717.5:c.196del	ENSP00000487704.1:p.Leu66SerfsTer16
NM_013382.5:c.1981del , LRG_844t1:c.1981del	NP_037514.2:p.Leu661SerfsTer16
XM_011536675.1:c.2170del	XP_011534977.1:p.Leu724SerfsTer16
XM_011536676.1:c.1837del	XP_011534978.1:p.Leu613SerfsTer16
XM_011536677.1:c.1711del	XP_011534979.1:p.Leu571SerfsTer16
XM_011536679.1:c.1264del	XP_011534981.1:p.Leu422SerfsTer16
XR_943416.1:n.2234del
XM_011536675.2:c.2170del	XP_011534977.1:p.Leu724SerfsTer16
XM_011536676.2:c.1837del	XP_011534978.1:p.Leu613SerfsTer16
XM_011536677.3:c.1711del	XP_011534979.1:p.Leu571SerfsTer16
XR_001750279.1:n.2267del
XR_001750282.1:n.2920del
XR_943416.3:n.2232del
NM_013382.6:c.1981del	NP_037514.2:p.Leu661SerfsTer16
NM_013382.7:c.1981del MANE Select	NP_037514.2:p.Leu661SerfsTer16