Canonical Allele Identifier: CA2575587546

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278646-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278649_77278650del , CM000676.2:g.77278649_77278650del	GRCh38
NC_000014.8:g.77744992_77744993del , CM000676.1:g.77744992_77744993del	GRCh37
NC_000014.7:g.76814745_76814746del	NCBI36
NG_008897.1:g.47235_47236del , LRG_844:g.47235_47236del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.957+81_957+82del
ENST00000556394.2:c.1573+81_1573+82del	ENSP00000451967.2:n.1573+81_1573+82del
ENST00000682247.1:c.2021+81_2021+82del	ENSP00000507213.1:n.2021+81_2021+82del
ENST00000682395.1:n.2496+81_2496+82del
ENST00000682459.1:n.1735+81_1735+82del
ENST00000682467.1:c.1892-140_1892-139del	ENSP00000508062.1:n.1892-140_1892-139del
ENST00000682795.1:c.2179+81_2179+82del	ENSP00000507574.1:n.2179+81_2179+82del
ENST00000682895.1:n.1748+81_1748+82del
ENST00000682955.1:n.1606+81_1606+82del
ENST00000683188.1:c.2293+81_2293+82del
ENST00000683380.1:n.1696+81_1696+82del
ENST00000683907.1:c.297+81_297+82del	ENSP00000507754.1:n.297+81_297+82del
ENST00000684259.1:n.3799+81_3799+82del
ENST00000684538.1:n.1411+81_1411+82del
ENST00000684549.1:n.1583+81_1583+82del
ENST00000261534.9:c.2032+81_2032+82del MANE Select	ENSP00000261534.4:n.2032+81_2032+82del
ENST00000261534.8:c.2032+81_2032+82del	ENSP00000261534.4:n.2032+81_2032+82del
ENST00000452340.7:n.3008+81_3008+82del
ENST00000554767.5:n.2818+81_2818+82del
ENST00000555710.1:c.393+81_393+82del	ENSP00000451730.1:n.393+81_393+82del
ENST00000556394.1:c.88-140_88-139del
ENST00000556446.1:n.333+81_333+82del
ENST00000602717.5:c.247+81_247+82del	ENSP00000487704.1:n.247+81_247+82del
NM_013382.5:c.2032+81_2032+82del , LRG_844t1:c.2032+81_2032+82del	NP_037514.2:n.2032+81_2032+82del
XM_011536675.1:c.2221+81_2221+82del	XP_011534977.1:n.2221+81_2221+82del
XM_011536676.1:c.1888+81_1888+82del	XP_011534978.1:n.1888+81_1888+82del
XM_011536677.1:c.1762+81_1762+82del	XP_011534979.1:n.1762+81_1762+82del
XM_011536679.1:c.1315+81_1315+82del	XP_011534981.1:n.1315+81_1315+82del
XR_943416.1:n.2285+81_2285+82del
XM_011536675.2:c.2221+81_2221+82del	XP_011534977.1:n.2221+81_2221+82del
XM_011536676.2:c.1888+81_1888+82del	XP_011534978.1:n.1888+81_1888+82del
XM_011536677.3:c.1762+81_1762+82del	XP_011534979.1:n.1762+81_1762+82del
XR_001750279.1:n.2318+81_2318+82del
XR_001750282.1:n.2971+81_2971+82del
XR_943416.3:n.2283+81_2283+82del
NM_013382.6:c.2032+81_2032+82del	NP_037514.2:n.2032+81_2032+82del
NM_013382.7:c.2032+81_2032+82del MANE Select	NP_037514.2:n.2032+81_2032+82del