Canonical Allele Identifier: CA2625846360

Gene: POMT2

Linked Data

• dbSNP Id: rs2140163767
• gnomAD v4: 14-77279176-CATCTTTGCTGCCACACAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77279185_77279202del , CM000676.2:g.77279185_77279202del	GRCh38
NC_000014.8:g.77745528_77745545del , CM000676.1:g.77745528_77745545del	GRCh37
NC_000014.7:g.76815281_76815298del	NCBI36
NG_008897.1:g.46689_46706del , LRG_844:g.46689_46706del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.817-325_817-308del
ENST00000556394.2:c.1433-325_1433-308del	ENSP00000451967.2:n.1433-325_1433-308del
ENST00000682128.1:c.193-325_193-308del	ENSP00000506976.1:n.193-325_193-308del
ENST00000682247.1:c.1892-336_1892-319del	ENSP00000507213.1:n.1892-336_1892-319del
ENST00000682395.1:n.2356-325_2356-308del
ENST00000682459.1:n.1595-325_1595-308del
ENST00000682467.1:c.1891+629_1891+646del	ENSP00000508062.1:n.1891+629_1891+646del
ENST00000682615.1:n.246-325_246-308del
ENST00000682795.1:c.2039-325_2039-308del	ENSP00000507574.1:n.2039-325_2039-308del
ENST00000682895.1:n.1608-325_1608-308del
ENST00000682955.1:n.1466-325_1466-308del
ENST00000683095.1:c.298-325_298-308del	ENSP00000508040.1:n.298-325_298-308del
ENST00000683188.1:c.2153-325_2153-308del
ENST00000683380.1:n.1556-325_1556-308del
ENST00000683828.1:c.1601-325_1601-308del
ENST00000683907.1:c.157-325_157-308del	ENSP00000507754.1:n.157-325_157-308del
ENST00000684172.1:c.268-325_268-308del	ENSP00000508391.1:n.268-325_268-308del
ENST00000684259.1:n.3334_3351del
ENST00000684538.1:n.946_963del
ENST00000684549.1:n.1443-325_1443-308del
ENST00000261534.9:c.1892-325_1892-308del MANE Select	ENSP00000261534.4:n.1892-325_1892-308del
ENST00000261534.8:c.1892-325_1892-308del	ENSP00000261534.4:n.1892-325_1892-308del
ENST00000452340.7:n.2543_2560del
ENST00000554767.5:n.2678-325_2678-308del
ENST00000555134.1:n.817-325_817-308del
ENST00000555710.1:c.161-233_161-216del	ENSP00000451730.1:n.161-233_161-216del
ENST00000556171.1:c.484-325_484-308del
ENST00000556394.1:c.87+629_87+646del
ENST00000602717.5:c.107-325_107-308del	ENSP00000487704.1:n.107-325_107-308del
NM_013382.5:c.1892-325_1892-308del , LRG_844t1:c.1892-325_1892-308del	NP_037514.2:n.1892-325_1892-308del
XM_011536675.1:c.2081-325_2081-308del	XP_011534977.1:n.2081-325_2081-308del
XM_011536676.1:c.1748-325_1748-308del	XP_011534978.1:n.1748-325_1748-308del
XM_011536677.1:c.1622-325_1622-308del	XP_011534979.1:n.1622-325_1622-308del
XM_011536678.1:c.*304_*321del	XP_011534980.1:n.*304_*321del
XM_011536679.1:c.1175-325_1175-308del	XP_011534981.1:n.1175-325_1175-308del
XR_943416.1:n.2145-325_2145-308del
XM_011536675.2:c.2081-325_2081-308del	XP_011534977.1:n.2081-325_2081-308del
XM_011536676.2:c.1748-325_1748-308del	XP_011534978.1:n.1748-325_1748-308del
XM_011536677.3:c.1622-325_1622-308del	XP_011534979.1:n.1622-325_1622-308del
XR_001750279.1:n.2178-325_2178-308del
XR_001750282.1:n.2831-325_2831-308del
XR_943416.3:n.2143-325_2143-308del
NM_013382.6:c.1892-325_1892-308del	NP_037514.2:n.1892-325_1892-308del
NM_013382.7:c.1892-325_1892-308del MANE Select	NP_037514.2:n.1892-325_1892-308del