Canonical Allele Identifier: CA390517669
Gene: POMT2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77286763T>C , CM000676.2:g.77286763T>C GRCh38
NC_000014.8:g.77753106T>C , CM000676.1:g.77753106T>C GRCh37
NC_000014.7:g.76822859T>C NCBI36
NG_008897.1:g.39120A>G , LRG_844:g.39120A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000556394.2:c.854A>G ENSP00000451967.2:p.Gln285Arg
ENST00000682247.1:c.1313A>G ENSP00000507213.1:p.Gln438Arg
ENST00000682382.1:c.885A>G
ENST00000682395.1:n.1491A>G
ENST00000682459.1:n.1016A>G
ENST00000682467.1:c.1313A>G ENSP00000508062.1:p.Gln438Arg
ENST00000682706.1:n.90A>G
ENST00000682795.1:c.1313A>G ENSP00000507574.1:p.Gln438Arg
ENST00000682895.1:n.1029A>G
ENST00000682955.1:n.601A>G
ENST00000683188.1:c.1288A>G
ENST00000683328.1:c.306A>G ENSP00000508096.1:n.306A>G
ENST00000683380.1:n.977A>G
ENST00000683828.1:c.1022A>G
ENST00000684259.1:n.1164A>G
ENST00000684444.1:c.60A>G
ENST00000684549.1:n.864A>G
ENST00000261534.9:c.1313A>G MANE Select ENSP00000261534.4:p.Gln438Arg
ENST00000261534.8:c.1313A>G ENSP00000261534.4:p.Gln438Arg
ENST00000452340.7:n.1336A>G
ENST00000553880.5:n.184A>G
ENST00000554767.5:n.2099A>G
ENST00000554884.5:n.305A>G
ENST00000556404.1:n.447A>G
ENST00000556851.1:n.349A>G
ENST00000557675.5:n.403A>G
NM_013382.5:c.1313A>G , LRG_844t1:c.1313A>G NP_037514.2:p.Gln438Arg
XM_011536675.1:c.1313A>G XP_011534977.1:p.Gln438Arg
XM_011536676.1:c.980A>G XP_011534978.1:p.Gln327Arg
XM_011536677.1:c.854A>G XP_011534979.1:p.Gln285Arg
XM_011536678.1:c.1313A>G XP_011534980.1:p.Gln438Arg
XM_011536679.1:c.407A>G XP_011534981.1:p.Gln136Arg
XR_943416.1:n.1516A>G
XM_011536675.2:c.1313A>G XP_011534977.1:p.Gln438Arg
XM_011536676.2:c.980A>G XP_011534978.1:p.Gln327Arg
XM_011536677.3:c.854A>G XP_011534979.1:p.Gln285Arg
XR_001750279.1:n.1513A>G
XR_001750282.1:n.1966A>G
XR_943416.3:n.1514A>G
NM_013382.6:c.1313A>G NP_037514.2:p.Gln438Arg
NM_013382.7:c.1313A>G MANE Select NP_037514.2:p.Gln438Arg