Canonical Allele Identifier: CA2625845514

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278694-GCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278697_77278698del , CM000676.2:g.77278697_77278698del	GRCh38
NC_000014.8:g.77745040_77745041del , CM000676.1:g.77745040_77745041del	GRCh37
NC_000014.7:g.76814793_76814794del	NCBI36
NG_008897.1:g.47187_47188del , LRG_844:g.47187_47188del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.957+33_957+34del
ENST00000556394.2:c.1573+33_1573+34del	ENSP00000451967.2:n.1573+33_1573+34del
ENST00000682247.1:c.2021+33_2021+34del	ENSP00000507213.1:n.2021+33_2021+34del
ENST00000682395.1:n.2496+33_2496+34del
ENST00000682459.1:n.1735+33_1735+34del
ENST00000682467.1:c.1892-188_1892-187del	ENSP00000508062.1:n.1892-188_1892-187del
ENST00000682795.1:c.2179+33_2179+34del	ENSP00000507574.1:n.2179+33_2179+34del
ENST00000682895.1:n.1748+33_1748+34del
ENST00000682955.1:n.1606+33_1606+34del
ENST00000683188.1:c.2293+33_2293+34del
ENST00000683380.1:n.1696+33_1696+34del
ENST00000683907.1:c.297+33_297+34del	ENSP00000507754.1:n.297+33_297+34del
ENST00000684259.1:n.3799+33_3799+34del
ENST00000684538.1:n.1411+33_1411+34del
ENST00000684549.1:n.1583+33_1583+34del
ENST00000261534.9:c.2032+33_2032+34del MANE Select	ENSP00000261534.4:n.2032+33_2032+34del
ENST00000261534.8:c.2032+33_2032+34del	ENSP00000261534.4:n.2032+33_2032+34del
ENST00000452340.7:n.3008+33_3008+34del
ENST00000554767.5:n.2818+33_2818+34del
ENST00000555710.1:c.393+33_393+34del	ENSP00000451730.1:n.393+33_393+34del
ENST00000556394.1:c.88-188_88-187del
ENST00000556446.1:n.333+33_333+34del
ENST00000602717.5:c.247+33_247+34del	ENSP00000487704.1:n.247+33_247+34del
NM_013382.5:c.2032+33_2032+34del , LRG_844t1:c.2032+33_2032+34del	NP_037514.2:n.2032+33_2032+34del
XM_011536675.1:c.2221+33_2221+34del	XP_011534977.1:n.2221+33_2221+34del
XM_011536676.1:c.1888+33_1888+34del	XP_011534978.1:n.1888+33_1888+34del
XM_011536677.1:c.1762+33_1762+34del	XP_011534979.1:n.1762+33_1762+34del
XM_011536679.1:c.1315+33_1315+34del	XP_011534981.1:n.1315+33_1315+34del
XR_943416.1:n.2285+33_2285+34del
XM_011536675.2:c.2221+33_2221+34del	XP_011534977.1:n.2221+33_2221+34del
XM_011536676.2:c.1888+33_1888+34del	XP_011534978.1:n.1888+33_1888+34del
XM_011536677.3:c.1762+33_1762+34del	XP_011534979.1:n.1762+33_1762+34del
XR_001750279.1:n.2318+33_2318+34del
XR_001750282.1:n.2971+33_2971+34del
XR_943416.3:n.2283+33_2283+34del
NM_013382.6:c.2032+33_2032+34del	NP_037514.2:n.2032+33_2032+34del
NM_013382.7:c.2032+33_2032+34del MANE Select	NP_037514.2:n.2032+33_2032+34del