Canonical Allele Identifier: CA390517661
Gene: POMT2 HGNC NCBI

Linked Data

dbSNP Id: rs1394668166

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77286760A>G , CM000676.2:g.77286760A>G GRCh38
NC_000014.8:g.77753103A>G , CM000676.1:g.77753103A>G GRCh37
NC_000014.7:g.76822856A>G NCBI36
NG_008897.1:g.39123T>C , LRG_844:g.39123T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000556394.2:c.857T>C ENSP00000451967.2:p.Val286Ala
ENST00000682247.1:c.1316T>C ENSP00000507213.1:p.Val439Ala
ENST00000682382.1:c.888T>C
ENST00000682395.1:n.1494T>C
ENST00000682459.1:n.1019T>C
ENST00000682467.1:c.1316T>C ENSP00000508062.1:p.Val439Ala
ENST00000682706.1:n.93T>C
ENST00000682795.1:c.1316T>C ENSP00000507574.1:p.Val439Ala
ENST00000682895.1:n.1032T>C
ENST00000682955.1:n.604T>C
ENST00000683188.1:c.1291T>C
ENST00000683328.1:c.309T>C ENSP00000508096.1:n.309T>C
ENST00000683380.1:n.980T>C
ENST00000683828.1:c.1025T>C
ENST00000684259.1:n.1167T>C
ENST00000684444.1:c.63T>C
ENST00000684549.1:n.867T>C
ENST00000261534.9:c.1316T>C MANE Select ENSP00000261534.4:p.Val439Ala
ENST00000261534.8:c.1316T>C ENSP00000261534.4:p.Val439Ala
ENST00000452340.7:n.1339T>C
ENST00000553880.5:n.187T>C
ENST00000554767.5:n.2102T>C
ENST00000554884.5:n.308T>C
ENST00000556404.1:n.450T>C
ENST00000556851.1:n.352T>C
ENST00000557675.5:n.406T>C
NM_013382.5:c.1316T>C , LRG_844t1:c.1316T>C NP_037514.2:p.Val439Ala
XM_011536675.1:c.1316T>C XP_011534977.1:p.Val439Ala
XM_011536676.1:c.983T>C XP_011534978.1:p.Val328Ala
XM_011536677.1:c.857T>C XP_011534979.1:p.Val286Ala
XM_011536678.1:c.1316T>C XP_011534980.1:p.Val439Ala
XM_011536679.1:c.410T>C XP_011534981.1:p.Val137Ala
XR_943416.1:n.1519T>C
XM_011536675.2:c.1316T>C XP_011534977.1:p.Val439Ala
XM_011536676.2:c.983T>C XP_011534978.1:p.Val328Ala
XM_011536677.3:c.857T>C XP_011534979.1:p.Val286Ala
XR_001750279.1:n.1516T>C
XR_001750282.1:n.1969T>C
XR_943416.3:n.1517T>C
NM_013382.6:c.1316T>C NP_037514.2:p.Val439Ala
NM_013382.7:c.1316T>C MANE Select NP_037514.2:p.Val439Ala