Canonical Allele Identifier: CA390517778
Gene: POMT2 HGNC NCBI

Linked Data

dbSNP Id: rs1890442196

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77286810G>C , CM000676.2:g.77286810G>C GRCh38
NC_000014.8:g.77753153G>C , CM000676.1:g.77753153G>C GRCh37
NC_000014.7:g.76822906G>C NCBI36
NG_008897.1:g.39073C>G , LRG_844:g.39073C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000556394.2:c.807C>G ENSP00000451967.2:p.Asn269Lys
ENST00000682247.1:c.1266C>G ENSP00000507213.1:p.Asn422Lys
ENST00000682382.1:c.838C>G
ENST00000682395.1:n.1444C>G
ENST00000682459.1:n.969C>G
ENST00000682467.1:c.1266C>G ENSP00000508062.1:p.Asn422Lys
ENST00000682706.1:n.43C>G
ENST00000682795.1:c.1266C>G ENSP00000507574.1:p.Asn422Lys
ENST00000682895.1:n.982C>G
ENST00000682955.1:n.554C>G
ENST00000683188.1:c.1241C>G
ENST00000683328.1:c.259C>G ENSP00000508096.1:n.259C>G
ENST00000683380.1:n.930C>G
ENST00000683828.1:c.975C>G
ENST00000684259.1:n.1117C>G
ENST00000684444.1:c.13C>G
ENST00000684549.1:n.817C>G
ENST00000261534.9:c.1266C>G MANE Select ENSP00000261534.4:p.Asn422Lys
ENST00000261534.8:c.1266C>G ENSP00000261534.4:p.Asn422Lys
ENST00000452340.7:n.1289C>G
ENST00000553880.5:n.137C>G
ENST00000554767.5:n.2052C>G
ENST00000554884.5:n.258C>G
ENST00000556404.1:n.400C>G
ENST00000556851.1:n.302C>G
ENST00000557675.5:n.356C>G
NM_013382.5:c.1266C>G , LRG_844t1:c.1266C>G NP_037514.2:p.Asn422Lys
XM_011536675.1:c.1266C>G XP_011534977.1:p.Asn422Lys
XM_011536676.1:c.933C>G XP_011534978.1:p.Asn311Lys
XM_011536677.1:c.807C>G XP_011534979.1:p.Asn269Lys
XM_011536678.1:c.1266C>G XP_011534980.1:p.Asn422Lys
XM_011536679.1:c.360C>G XP_011534981.1:p.Asn120Lys
XR_943416.1:n.1469C>G
XM_011536675.2:c.1266C>G XP_011534977.1:p.Asn422Lys
XM_011536676.2:c.933C>G XP_011534978.1:p.Asn311Lys
XM_011536677.3:c.807C>G XP_011534979.1:p.Asn269Lys
XR_001750279.1:n.1466C>G
XR_001750282.1:n.1919C>G
XR_943416.3:n.1467C>G
NM_013382.6:c.1266C>G NP_037514.2:p.Asn422Lys
NM_013382.7:c.1266C>G MANE Select NP_037514.2:p.Asn422Lys