Canonical Allele Identifier: CA615410315

Gene: POMT2

Linked Data

• dbSNP Id: rs1274304405
• gnomAD v2: 14-77744966-CACAGTGGCCTCCCGTCAAGGAGCAGAGTCACTCCCAGCACTGCTGCCCA-C
• gnomAD v3: 14-77278623-CACAGTGGCCTCCCGTCAAGGAGCAGAGTCACTCCCAGCACTGCTGCCCA-C
• gnomAD v4: 14-77278623-CACAGTGGCCTCCCGTCAAGGAGCAGAGTCACTCCCAGCACTGCTGCCCA-C
• MyVariant Identifiers: chr14:g.77744967_77745015del (hg19) ; chr14:g.77278624_77278672del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278633_77278681del , CM000676.2:g.77278633_77278681del	GRCh38
NC_000014.8:g.77744976_77745024del , CM000676.1:g.77744976_77745024del	GRCh37
NC_000014.7:g.76814729_76814777del	NCBI36
NG_008897.1:g.47211_47259del , LRG_844:g.47211_47259del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.957+57_957+105del
ENST00000556394.2:c.1573+57_1573+105del	ENSP00000451967.2:n.1573+57_1573+105del
ENST00000682247.1:c.2021+57_2021+105del	ENSP00000507213.1:n.2021+57_2021+105del
ENST00000682395.1:n.2496+57_2496+105del
ENST00000682459.1:n.1735+57_1735+105del
ENST00000682467.1:c.1892-164_1892-116del	ENSP00000508062.1:n.1892-164_1892-116del
ENST00000682795.1:c.2179+57_2179+105del	ENSP00000507574.1:n.2179+57_2179+105del
ENST00000682895.1:n.1748+57_1748+105del
ENST00000682955.1:n.1606+57_1606+105del
ENST00000683188.1:c.2293+57_2293+105del
ENST00000683380.1:n.1696+57_1696+105del
ENST00000683907.1:c.297+57_297+105del	ENSP00000507754.1:n.297+57_297+105del
ENST00000684259.1:n.3799+57_3799+105del
ENST00000684538.1:n.1411+57_1411+105del
ENST00000684549.1:n.1583+57_1583+105del
ENST00000261534.9:c.2032+57_2032+105del MANE Select	ENSP00000261534.4:n.2032+57_2032+105del
ENST00000261534.8:c.2032+57_2032+105del	ENSP00000261534.4:n.2032+57_2032+105del
ENST00000452340.7:n.3008+57_3008+105del
ENST00000554767.5:n.2818+57_2818+105del
ENST00000555710.1:c.393+57_393+105del	ENSP00000451730.1:n.393+57_393+105del
ENST00000556394.1:c.88-164_88-116del
ENST00000556446.1:n.333+57_333+105del
ENST00000602717.5:c.247+57_247+105del	ENSP00000487704.1:n.247+57_247+105del
NM_013382.5:c.2032+57_2032+105del , LRG_844t1:c.2032+57_2032+105del	NP_037514.2:n.2032+57_2032+105del
XM_011536675.1:c.2221+57_2221+105del	XP_011534977.1:n.2221+57_2221+105del
XM_011536676.1:c.1888+57_1888+105del	XP_011534978.1:n.1888+57_1888+105del
XM_011536677.1:c.1762+57_1762+105del	XP_011534979.1:n.1762+57_1762+105del
XM_011536679.1:c.1315+57_1315+105del	XP_011534981.1:n.1315+57_1315+105del
XR_943416.1:n.2285+57_2285+105del
XM_011536675.2:c.2221+57_2221+105del	XP_011534977.1:n.2221+57_2221+105del
XM_011536676.2:c.1888+57_1888+105del	XP_011534978.1:n.1888+57_1888+105del
XM_011536677.3:c.1762+57_1762+105del	XP_011534979.1:n.1762+57_1762+105del
XR_001750279.1:n.2318+57_2318+105del
XR_001750282.1:n.2971+57_2971+105del
XR_943416.3:n.2283+57_2283+105del
NM_013382.6:c.2032+57_2032+105del	NP_037514.2:n.2032+57_2032+105del
NM_013382.7:c.2032+57_2032+105del MANE Select	NP_037514.2:n.2032+57_2032+105del