Canonical Allele Identifier: CA390517670
Gene: POMT2 HGNC NCBI

Linked Data

dbSNP Id: rs1890439542

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000556394.2:c.854A>C ENSP00000451967.2:p.Gln285Pro
ENST00000682247.1:c.1313A>C ENSP00000507213.1:p.Gln438Pro
ENST00000682382.1:c.885A>C
ENST00000682395.1:n.1491A>C
ENST00000682459.1:n.1016A>C
ENST00000682467.1:c.1313A>C ENSP00000508062.1:p.Gln438Pro
ENST00000682706.1:n.90A>C
ENST00000682795.1:c.1313A>C ENSP00000507574.1:p.Gln438Pro
ENST00000682895.1:n.1029A>C
ENST00000682955.1:n.601A>C
ENST00000683188.1:c.1288A>C
ENST00000683328.1:c.306A>C ENSP00000508096.1:n.306A>C
ENST00000683380.1:n.977A>C
ENST00000683828.1:c.1022A>C
ENST00000684259.1:n.1164A>C
ENST00000684444.1:c.60A>C
ENST00000684549.1:n.864A>C
ENST00000261534.9:c.1313A>C MANE Select ENSP00000261534.4:p.Gln438Pro
ENST00000261534.8:c.1313A>C ENSP00000261534.4:p.Gln438Pro
ENST00000452340.7:n.1336A>C
ENST00000553880.5:n.184A>C
ENST00000554767.5:n.2099A>C
ENST00000554884.5:n.305A>C
ENST00000556404.1:n.447A>C
ENST00000556851.1:n.349A>C
ENST00000557675.5:n.403A>C
NM_013382.5:c.1313A>C , LRG_844t1:c.1313A>C NP_037514.2:p.Gln438Pro
XM_011536675.1:c.1313A>C XP_011534977.1:p.Gln438Pro
XM_011536676.1:c.980A>C XP_011534978.1:p.Gln327Pro
XM_011536677.1:c.854A>C XP_011534979.1:p.Gln285Pro
XM_011536678.1:c.1313A>C XP_011534980.1:p.Gln438Pro
XM_011536679.1:c.407A>C XP_011534981.1:p.Gln136Pro
XR_943416.1:n.1516A>C
XM_011536675.2:c.1313A>C XP_011534977.1:p.Gln438Pro
XM_011536676.2:c.980A>C XP_011534978.1:p.Gln327Pro
XM_011536677.3:c.854A>C XP_011534979.1:p.Gln285Pro
XR_001750279.1:n.1513A>C
XR_001750282.1:n.1966A>C
XR_943416.3:n.1514A>C
NM_013382.6:c.1313A>C NP_037514.2:p.Gln438Pro
NM_013382.7:c.1313A>C MANE Select NP_037514.2:p.Gln438Pro