Canonical Allele Identifier: CA390520220
Gene: POMT2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77301160A>G , CM000676.2:g.77301160A>G GRCh38
NC_000014.8:g.77767503A>G , CM000676.1:g.77767503A>G GRCh37
NC_000014.7:g.76837256A>G NCBI36
NG_008897.1:g.24723T>C , LRG_844:g.24723T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553863.6:c.199T>C ENSP00000508202.1:n.199T>C
ENST00000556394.2:c.358-1599T>C ENSP00000451967.2:n.358-1599T>C
ENST00000556880.6:n.770T>C
ENST00000557289.2:c.90T>C
ENST00000682247.1:c.746T>C ENSP00000507213.1:p.Ile249Thr
ENST00000682382.1:c.496-2389T>C
ENST00000682395.1:n.475T>C
ENST00000682459.1:n.410T>C
ENST00000682467.1:c.746T>C ENSP00000508062.1:p.Ile249Thr
ENST00000682795.1:c.746T>C ENSP00000507574.1:p.Ile249Thr
ENST00000682895.1:n.462T>C
ENST00000682955.1:n.212-2389T>C
ENST00000683167.1:c.90T>C
ENST00000683188.1:c.343-1599T>C
ENST00000683300.1:c.109+3532T>C ENSP00000507630.1:n.109+3532T>C
ENST00000683328.1:c.109+3532T>C ENSP00000508096.1:n.109+3532T>C
ENST00000683380.1:n.410T>C
ENST00000683398.1:c.90T>C
ENST00000683551.1:c.109+1675T>C
ENST00000683828.1:c.526-1599T>C
ENST00000684259.1:n.597T>C
ENST00000684549.1:n.368-1599T>C
ENST00000684554.1:c.90T>C
ENST00000261534.9:c.746T>C MANE Select ENSP00000261534.4:p.Ile249Thr
ENST00000261534.8:c.746T>C ENSP00000261534.4:p.Ile249Thr
ENST00000452340.7:n.769T>C
ENST00000553863.5:n.410T>C
ENST00000554767.5:n.4T>C
ENST00000555675.5:n.462T>C
ENST00000556326.5:c.*412T>C ENSP00000450630.1:n.*412T>C
ENST00000557289.1:c.56-1599T>C ENSP00000451115.1:n.56-1599T>C
NM_013382.5:c.746T>C , LRG_844t1:c.746T>C NP_037514.2:p.Ile249Thr
XM_011536675.1:c.746T>C XP_011534977.1:p.Ile249Thr
XM_011536676.1:c.413T>C XP_011534978.1:p.Ile138Thr
XM_011536677.1:c.547+3532T>C XP_011534979.1:n.547+3532T>C
XM_011536678.1:c.746T>C XP_011534980.1:p.Ile249Thr
XM_011536679.1:c.-90-1599T>C XP_011534981.1:n.-90-1599T>C
XM_011536680.1:c.746T>C XP_011534982.1:p.Ile249Thr
XR_943416.1:n.949T>C
XM_011536675.2:c.746T>C XP_011534977.1:p.Ile249Thr
XM_011536676.2:c.413T>C XP_011534978.1:p.Ile138Thr
XM_011536677.3:c.547+3532T>C XP_011534979.1:n.547+3532T>C
XR_001750279.1:n.946T>C
XR_001750282.1:n.950T>C
XR_943416.3:n.947T>C
NM_013382.6:c.746T>C NP_037514.2:p.Ile249Thr
NM_013382.7:c.746T>C MANE Select NP_037514.2:p.Ile249Thr