Canonical Allele Identifier: CA2575587527

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278455-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278457del , CM000676.2:g.77278457del	GRCh38
NC_000014.8:g.77744800del , CM000676.1:g.77744800del	GRCh37
NC_000014.7:g.76814553del	NCBI36
NG_008897.1:g.47427del , LRG_844:g.47427del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.1010del
ENST00000556394.2:c.1626del	ENSP00000451967.2:p.Trp542CysfsTer13
ENST00000682247.1:c.2074del	ENSP00000507213.1:p.Ala692ProfsTer?
ENST00000682395.1:n.2549del
ENST00000682459.1:n.1788del
ENST00000682467.1:c.1944del	ENSP00000508062.1:p.Trp648CysfsTer13
ENST00000682795.1:c.2232del	ENSP00000507574.1:p.Trp744CysfsTer13
ENST00000682895.1:n.1801del
ENST00000682955.1:n.1659del
ENST00000683188.1:c.2346del
ENST00000683380.1:n.1749del
ENST00000683907.1:c.350del	ENSP00000507754.1:n.350del
ENST00000684259.1:n.3852del
ENST00000684538.1:n.1464del
ENST00000684549.1:n.1636del
ENST00000261534.9:c.2085del MANE Select	ENSP00000261534.4:p.Trp695CysfsTer13
ENST00000261534.8:c.2085del	ENSP00000261534.4:p.Trp695CysfsTer13
ENST00000452340.7:n.3061del
ENST00000554767.5:n.2871del
ENST00000555710.1:c.446del	ENSP00000451730.1:n.446del
ENST00000556394.1:c.140del
ENST00000556446.1:n.386del
ENST00000602717.5:c.300del	ENSP00000487704.1:p.Trp100CysfsTer13
NM_013382.5:c.2085del , LRG_844t1:c.2085del	NP_037514.2:p.Trp695CysfsTer13
XM_011536675.1:c.2274del	XP_011534977.1:p.Trp758CysfsTer13
XM_011536676.1:c.1941del	XP_011534978.1:p.Trp647CysfsTer13
XM_011536677.1:c.1815del	XP_011534979.1:p.Trp605CysfsTer13
XM_011536679.1:c.1368del	XP_011534981.1:p.Trp456CysfsTer13
XR_943416.1:n.2338del
XM_011536675.2:c.2274del	XP_011534977.1:p.Trp758CysfsTer13
XM_011536676.2:c.1941del	XP_011534978.1:p.Trp647CysfsTer13
XM_011536677.3:c.1815del	XP_011534979.1:p.Trp605CysfsTer13
XR_001750279.1:n.2371del
XR_001750282.1:n.3024del
XR_943416.3:n.2336del
NM_013382.6:c.2085del	NP_037514.2:p.Trp695CysfsTer13
NM_013382.7:c.2085del MANE Select	NP_037514.2:p.Trp695CysfsTer13