Canonical Allele Identifier: CA2625845489
Gene: POMT2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77278660G>T , CM000676.2:g.77278660G>T GRCh38
NC_000014.8:g.77745003G>T , CM000676.1:g.77745003G>T GRCh37
NC_000014.7:g.76814756G>T NCBI36
NG_008897.1:g.47223C>A , LRG_844:g.47223C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000555134.2:n.957+69C>A
ENST00000556394.2:c.1573+69C>A ENSP00000451967.2:n.1573+69C>A
ENST00000682247.1:c.2021+69C>A ENSP00000507213.1:n.2021+69C>A
ENST00000682395.1:n.2496+69C>A
ENST00000682459.1:n.1735+69C>A
ENST00000682467.1:c.1892-152C>A ENSP00000508062.1:n.1892-152C>A
ENST00000682795.1:c.2179+69C>A ENSP00000507574.1:n.2179+69C>A
ENST00000682895.1:n.1748+69C>A
ENST00000682955.1:n.1606+69C>A
ENST00000683188.1:c.2293+69C>A
ENST00000683380.1:n.1696+69C>A
ENST00000683907.1:c.297+69C>A ENSP00000507754.1:n.297+69C>A
ENST00000684259.1:n.3799+69C>A
ENST00000684538.1:n.1411+69C>A
ENST00000684549.1:n.1583+69C>A
ENST00000261534.9:c.2032+69C>A MANE Select ENSP00000261534.4:n.2032+69C>A
ENST00000261534.8:c.2032+69C>A ENSP00000261534.4:n.2032+69C>A
ENST00000452340.7:n.3008+69C>A
ENST00000554767.5:n.2818+69C>A
ENST00000555710.1:c.393+69C>A ENSP00000451730.1:n.393+69C>A
ENST00000556394.1:c.88-152C>A
ENST00000556446.1:n.333+69C>A
ENST00000602717.5:c.247+69C>A ENSP00000487704.1:n.247+69C>A
NM_013382.5:c.2032+69C>A , LRG_844t1:c.2032+69C>A NP_037514.2:n.2032+69C>A
XM_011536675.1:c.2221+69C>A XP_011534977.1:n.2221+69C>A
XM_011536676.1:c.1888+69C>A XP_011534978.1:n.1888+69C>A
XM_011536677.1:c.1762+69C>A XP_011534979.1:n.1762+69C>A
XM_011536679.1:c.1315+69C>A XP_011534981.1:n.1315+69C>A
XR_943416.1:n.2285+69C>A
XM_011536675.2:c.2221+69C>A XP_011534977.1:n.2221+69C>A
XM_011536676.2:c.1888+69C>A XP_011534978.1:n.1888+69C>A
XM_011536677.3:c.1762+69C>A XP_011534979.1:n.1762+69C>A
XR_001750279.1:n.2318+69C>A
XR_001750282.1:n.2971+69C>A
XR_943416.3:n.2283+69C>A
NM_013382.6:c.2032+69C>A NP_037514.2:n.2032+69C>A
NM_013382.7:c.2032+69C>A MANE Select NP_037514.2:n.2032+69C>A