Canonical Allele Identifier: CA915946329

Gene: POMT2

Linked Data

• ClinVar Variation Id: 650053
• ClinVar RCV Id: RCV000805132
• dbSNP Id: rs1594890912

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286794_77286796del , CM000676.2:g.77286794_77286796del	GRCh38
NC_000014.8:g.77753137_77753139del , CM000676.1:g.77753137_77753139del	GRCh37
NC_000014.7:g.76822890_76822892del	NCBI36
NG_008897.1:g.39089_39091del , LRG_844:g.39089_39091del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.823_825del	ENSP00000451967.2:p.His275del
ENST00000682247.1:c.1282_1284del	ENSP00000507213.1:p.His428del
ENST00000682382.1:c.854_856del
ENST00000682395.1:n.1460_1462del
ENST00000682459.1:n.985_987del
ENST00000682467.1:c.1282_1284del	ENSP00000508062.1:p.His428del
ENST00000682706.1:n.59_61del
ENST00000682795.1:c.1282_1284del	ENSP00000507574.1:p.His428del
ENST00000682895.1:n.998_1000del
ENST00000682955.1:n.570_572del
ENST00000683188.1:c.1257_1259del
ENST00000683328.1:c.275_277del	ENSP00000508096.1:n.275_277del
ENST00000683380.1:n.946_948del
ENST00000683828.1:c.991_993del
ENST00000684259.1:n.1133_1135del
ENST00000684444.1:c.29_31del
ENST00000684549.1:n.833_835del
ENST00000261534.9:c.1282_1284del MANE Select	ENSP00000261534.4:p.His428del
ENST00000261534.8:c.1282_1284del	ENSP00000261534.4:p.His428del
ENST00000452340.7:n.1305_1307del
ENST00000553880.5:n.153_155del
ENST00000554767.5:n.2068_2070del
ENST00000554884.5:n.274_276del
ENST00000556404.1:n.416_418del
ENST00000556851.1:n.318_320del
ENST00000557675.5:n.372_374del
NM_013382.5:c.1282_1284del , LRG_844t1:c.1282_1284del	NP_037514.2:p.His428del
XM_011536675.1:c.1282_1284del	XP_011534977.1:p.His428del
XM_011536676.1:c.949_951del	XP_011534978.1:p.His317del
XM_011536677.1:c.823_825del	XP_011534979.1:p.His275del
XM_011536678.1:c.1282_1284del	XP_011534980.1:p.His428del
XM_011536679.1:c.376_378del	XP_011534981.1:p.His126del
XR_943416.1:n.1485_1487del
XM_011536675.2:c.1282_1284del	XP_011534977.1:p.His428del
XM_011536676.2:c.949_951del	XP_011534978.1:p.His317del
XM_011536677.3:c.823_825del	XP_011534979.1:p.His275del
XR_001750279.1:n.1482_1484del
XR_001750282.1:n.1935_1937del
XR_943416.3:n.1483_1485del
NM_013382.6:c.1282_1284del	NP_037514.2:p.His428del
NM_013382.7:c.1282_1284del MANE Select	NP_037514.2:p.His428del