Canonical Allele Identifier: CA2625845362

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278498-CCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278501_77278502del , CM000676.2:g.77278501_77278502del	GRCh38
NC_000014.8:g.77744844_77744845del , CM000676.1:g.77744844_77744845del	GRCh37
NC_000014.7:g.76814597_76814598del	NCBI36
NG_008897.1:g.47383_47384del , LRG_844:g.47383_47384del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.966_967del
ENST00000556394.2:c.1582_1583del	ENSP00000451967.2:p.Trp528GlyfsTer?
ENST00000682247.1:c.2030_2031del	ENSP00000507213.1:p.Val677GlyfsTer27
ENST00000682395.1:n.2505_2506del
ENST00000682459.1:n.1744_1745del
ENST00000682467.1:c.1900_1901del	ENSP00000508062.1:p.Trp634GlyfsTer?
ENST00000682795.1:c.2188_2189del	ENSP00000507574.1:p.Trp730GlyfsTer?
ENST00000682895.1:n.1757_1758del
ENST00000682955.1:n.1615_1616del
ENST00000683188.1:c.2302_2303del
ENST00000683380.1:n.1705_1706del
ENST00000683907.1:c.306_307del	ENSP00000507754.1:n.306_307del
ENST00000684259.1:n.3808_3809del
ENST00000684538.1:n.1420_1421del
ENST00000684549.1:n.1592_1593del
ENST00000261534.9:c.2041_2042del MANE Select	ENSP00000261534.4:p.Trp681GlyfsTer?
ENST00000261534.8:c.2041_2042del	ENSP00000261534.4:p.Trp681GlyfsTer?
ENST00000452340.7:n.3017_3018del
ENST00000554767.5:n.2827_2828del
ENST00000555710.1:c.402_403del	ENSP00000451730.1:n.402_403del
ENST00000556394.1:c.96_97del
ENST00000556446.1:n.342_343del
ENST00000602717.5:c.256_257del	ENSP00000487704.1:p.Trp86GlyfsTer?
NM_013382.5:c.2041_2042del , LRG_844t1:c.2041_2042del	NP_037514.2:p.Trp681GlyfsTer?
XM_011536675.1:c.2230_2231del	XP_011534977.1:p.Trp744GlyfsTer?
XM_011536676.1:c.1897_1898del	XP_011534978.1:p.Trp633GlyfsTer?
XM_011536677.1:c.1771_1772del	XP_011534979.1:p.Trp591GlyfsTer?
XM_011536679.1:c.1324_1325del	XP_011534981.1:p.Trp442GlyfsTer?
XR_943416.1:n.2294_2295del
XM_011536675.2:c.2230_2231del	XP_011534977.1:p.Trp744GlyfsTer?
XM_011536676.2:c.1897_1898del	XP_011534978.1:p.Trp633GlyfsTer?
XM_011536677.3:c.1771_1772del	XP_011534979.1:p.Trp591GlyfsTer?
XR_001750279.1:n.2327_2328del
XR_001750282.1:n.2980_2981del
XR_943416.3:n.2292_2293del
NM_013382.6:c.2041_2042del	NP_037514.2:p.Trp681GlyfsTer?
NM_013382.7:c.2041_2042del MANE Select	NP_037514.2:p.Trp681GlyfsTer?