Canonical Allele Identifier: CA390517709
Gene: POMT2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77286781A>G , CM000676.2:g.77286781A>G GRCh38
NC_000014.8:g.77753124A>G , CM000676.1:g.77753124A>G GRCh37
NC_000014.7:g.76822877A>G NCBI36
NG_008897.1:g.39102T>C , LRG_844:g.39102T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000556394.2:c.836T>C ENSP00000451967.2:p.Met279Thr
ENST00000682247.1:c.1295T>C ENSP00000507213.1:p.Met432Thr
ENST00000682382.1:c.867T>C
ENST00000682395.1:n.1473T>C
ENST00000682459.1:n.998T>C
ENST00000682467.1:c.1295T>C ENSP00000508062.1:p.Met432Thr
ENST00000682706.1:n.72T>C
ENST00000682795.1:c.1295T>C ENSP00000507574.1:p.Met432Thr
ENST00000682895.1:n.1011T>C
ENST00000682955.1:n.583T>C
ENST00000683188.1:c.1270T>C
ENST00000683328.1:c.288T>C ENSP00000508096.1:n.288T>C
ENST00000683380.1:n.959T>C
ENST00000683828.1:c.1004T>C
ENST00000684259.1:n.1146T>C
ENST00000684444.1:c.42T>C
ENST00000684549.1:n.846T>C
ENST00000261534.9:c.1295T>C MANE Select ENSP00000261534.4:p.Met432Thr
ENST00000261534.8:c.1295T>C ENSP00000261534.4:p.Met432Thr
ENST00000452340.7:n.1318T>C
ENST00000553880.5:n.166T>C
ENST00000554767.5:n.2081T>C
ENST00000554884.5:n.287T>C
ENST00000556404.1:n.429T>C
ENST00000556851.1:n.331T>C
ENST00000557675.5:n.385T>C
NM_013382.5:c.1295T>C , LRG_844t1:c.1295T>C NP_037514.2:p.Met432Thr
XM_011536675.1:c.1295T>C XP_011534977.1:p.Met432Thr
XM_011536676.1:c.962T>C XP_011534978.1:p.Met321Thr
XM_011536677.1:c.836T>C XP_011534979.1:p.Met279Thr
XM_011536678.1:c.1295T>C XP_011534980.1:p.Met432Thr
XM_011536679.1:c.389T>C XP_011534981.1:p.Met130Thr
XR_943416.1:n.1498T>C
XM_011536675.2:c.1295T>C XP_011534977.1:p.Met432Thr
XM_011536676.2:c.962T>C XP_011534978.1:p.Met321Thr
XM_011536677.3:c.836T>C XP_011534979.1:p.Met279Thr
XR_001750279.1:n.1495T>C
XR_001750282.1:n.1948T>C
XR_943416.3:n.1496T>C
NM_013382.6:c.1295T>C NP_037514.2:p.Met432Thr
NM_013382.7:c.1295T>C MANE Select NP_037514.2:p.Met432Thr