Canonical Allele Identifier: CA390517786
Gene: POMT2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77286814C>G , CM000676.2:g.77286814C>G GRCh38
NC_000014.8:g.77753157C>G , CM000676.1:g.77753157C>G GRCh37
NC_000014.7:g.76822910C>G NCBI36
NG_008897.1:g.39069G>C , LRG_844:g.39069G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000556394.2:c.803G>C ENSP00000451967.2:p.Arg268Pro
ENST00000682247.1:c.1262G>C ENSP00000507213.1:p.Arg421Pro
ENST00000682382.1:c.834G>C
ENST00000682395.1:n.1440G>C
ENST00000682459.1:n.965G>C
ENST00000682467.1:c.1262G>C ENSP00000508062.1:p.Arg421Pro
ENST00000682706.1:n.39G>C
ENST00000682795.1:c.1262G>C ENSP00000507574.1:p.Arg421Pro
ENST00000682895.1:n.978G>C
ENST00000682955.1:n.550G>C
ENST00000683188.1:c.1237G>C
ENST00000683328.1:c.255G>C ENSP00000508096.1:n.255G>C
ENST00000683380.1:n.926G>C
ENST00000683828.1:c.971G>C
ENST00000684259.1:n.1113G>C
ENST00000684444.1:c.9G>C
ENST00000684549.1:n.813G>C
ENST00000261534.9:c.1262G>C MANE Select ENSP00000261534.4:p.Arg421Pro
ENST00000261534.8:c.1262G>C ENSP00000261534.4:p.Arg421Pro
ENST00000452340.7:n.1285G>C
ENST00000553880.5:n.133G>C
ENST00000554767.5:n.2048G>C
ENST00000554884.5:n.254G>C
ENST00000556404.1:n.396G>C
ENST00000556851.1:n.298G>C
ENST00000557675.5:n.352G>C
NM_013382.5:c.1262G>C , LRG_844t1:c.1262G>C NP_037514.2:p.Arg421Pro
XM_011536675.1:c.1262G>C XP_011534977.1:p.Arg421Pro
XM_011536676.1:c.929G>C XP_011534978.1:p.Arg310Pro
XM_011536677.1:c.803G>C XP_011534979.1:p.Arg268Pro
XM_011536678.1:c.1262G>C XP_011534980.1:p.Arg421Pro
XM_011536679.1:c.356G>C XP_011534981.1:p.Arg119Pro
XR_943416.1:n.1465G>C
XM_011536675.2:c.1262G>C XP_011534977.1:p.Arg421Pro
XM_011536676.2:c.929G>C XP_011534978.1:p.Arg310Pro
XM_011536677.3:c.803G>C XP_011534979.1:p.Arg268Pro
XR_001750279.1:n.1462G>C
XR_001750282.1:n.1915G>C
XR_943416.3:n.1463G>C
NM_013382.6:c.1262G>C NP_037514.2:p.Arg421Pro
NM_013382.7:c.1262G>C MANE Select NP_037514.2:p.Arg421Pro