Canonical Allele Identifier: CA2625847531
Gene: POMT2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77306133A>G , CM000676.2:g.77306133A>G GRCh38
NC_000014.8:g.77772476A>G , CM000676.1:g.77772476A>G GRCh37
NC_000014.7:g.76842229A>G NCBI36
NG_008897.1:g.19750T>C , LRG_844:g.19750T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000555675.6:n.371T>C
ENST00000556394.2:c.249-1333T>C ENSP00000451967.2:n.249-1333T>C
ENST00000556880.6:n.462+113T>C
ENST00000682247.1:c.438+204T>C ENSP00000507213.1:n.438+204T>C
ENST00000682382.1:c.386+204T>C
ENST00000682395.1:n.167+204T>C
ENST00000682459.1:n.102+269T>C
ENST00000682467.1:c.438+204T>C ENSP00000508062.1:n.438+204T>C
ENST00000682795.1:c.438+204T>C ENSP00000507574.1:n.438+204T>C
ENST00000682895.1:n.154+204T>C
ENST00000682955.1:n.102+269T>C
ENST00000683188.1:c.233+204T>C
ENST00000683380.1:n.102+269T>C
ENST00000683828.1:c.307+204T>C
ENST00000684102.1:n.388T>C
ENST00000684259.1:n.289+204T>C
ENST00000684479.1:n.105+204T>C
ENST00000684549.1:n.258+113T>C
ENST00000684600.1:c.252+204T>C
ENST00000684670.1:n.105+204T>C
ENST00000261534.9:c.438+204T>C MANE Select ENSP00000261534.4:n.438+204T>C
ENST00000261534.8:c.438+204T>C ENSP00000261534.4:n.438+204T>C
ENST00000452340.7:n.461+204T>C
ENST00000553863.5:n.102+269T>C
ENST00000554948.1:c.165+204T>C ENSP00000452060.1:n.165+204T>C
ENST00000555675.5:n.154+204T>C
ENST00000555788.5:n.363+113T>C
ENST00000556326.5:c.*104+204T>C ENSP00000450630.1:n.*104+204T>C
ENST00000556880.5:n.462+113T>C
ENST00000557525.1:n.528+204T>C
NM_013382.5:c.438+204T>C , LRG_844t1:c.438+204T>C NP_037514.2:n.438+204T>C
XM_011536675.1:c.438+204T>C XP_011534977.1:n.438+204T>C
XM_011536676.1:c.105+204T>C XP_011534978.1:n.105+204T>C
XM_011536677.1:c.438+204T>C XP_011534979.1:n.438+204T>C
XM_011536678.1:c.438+204T>C XP_011534980.1:n.438+204T>C
XM_011536679.1:c.-200+113T>C XP_011534981.1:n.-200+113T>C
XM_011536680.1:c.438+204T>C XP_011534982.1:n.438+204T>C
XR_943416.1:n.641+204T>C
XM_011536675.2:c.438+204T>C XP_011534977.1:n.438+204T>C
XM_011536676.2:c.105+204T>C XP_011534978.1:n.105+204T>C
XM_011536677.3:c.438+204T>C XP_011534979.1:n.438+204T>C
XR_001750279.1:n.638+204T>C
XR_001750282.1:n.642+204T>C
XR_943416.3:n.639+204T>C
NM_013382.6:c.438+204T>C NP_037514.2:n.438+204T>C
NM_013382.7:c.438+204T>C MANE Select NP_037514.2:n.438+204T>C