Canonical Allele Identifier: CA2625845465
Gene: POMT2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77278630G>T , CM000676.2:g.77278630G>T GRCh38
NC_000014.8:g.77744973G>T , CM000676.1:g.77744973G>T GRCh37
NC_000014.7:g.76814726G>T NCBI36
NG_008897.1:g.47253C>A , LRG_844:g.47253C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000555134.2:n.957+99C>A
ENST00000556394.2:c.1573+99C>A ENSP00000451967.2:n.1573+99C>A
ENST00000682247.1:c.2021+99C>A ENSP00000507213.1:n.2021+99C>A
ENST00000682395.1:n.2496+99C>A
ENST00000682459.1:n.1735+99C>A
ENST00000682467.1:c.1892-122C>A ENSP00000508062.1:n.1892-122C>A
ENST00000682795.1:c.2179+99C>A ENSP00000507574.1:n.2179+99C>A
ENST00000682895.1:n.1748+99C>A
ENST00000682955.1:n.1606+99C>A
ENST00000683188.1:c.2293+99C>A
ENST00000683380.1:n.1696+99C>A
ENST00000683907.1:c.297+99C>A ENSP00000507754.1:n.297+99C>A
ENST00000684259.1:n.3799+99C>A
ENST00000684538.1:n.1411+99C>A
ENST00000684549.1:n.1583+99C>A
ENST00000261534.9:c.2032+99C>A MANE Select ENSP00000261534.4:n.2032+99C>A
ENST00000261534.8:c.2032+99C>A ENSP00000261534.4:n.2032+99C>A
ENST00000452340.7:n.3008+99C>A
ENST00000554767.5:n.2818+99C>A
ENST00000555710.1:c.393+99C>A ENSP00000451730.1:n.393+99C>A
ENST00000556394.1:c.88-122C>A
ENST00000556446.1:n.333+99C>A
ENST00000602717.5:c.247+99C>A ENSP00000487704.1:n.247+99C>A
NM_013382.5:c.2032+99C>A , LRG_844t1:c.2032+99C>A NP_037514.2:n.2032+99C>A
XM_011536675.1:c.2221+99C>A XP_011534977.1:n.2221+99C>A
XM_011536676.1:c.1888+99C>A XP_011534978.1:n.1888+99C>A
XM_011536677.1:c.1762+99C>A XP_011534979.1:n.1762+99C>A
XM_011536679.1:c.1315+99C>A XP_011534981.1:n.1315+99C>A
XR_943416.1:n.2285+99C>A
XM_011536675.2:c.2221+99C>A XP_011534977.1:n.2221+99C>A
XM_011536676.2:c.1888+99C>A XP_011534978.1:n.1888+99C>A
XM_011536677.3:c.1762+99C>A XP_011534979.1:n.1762+99C>A
XR_001750279.1:n.2318+99C>A
XR_001750282.1:n.2971+99C>A
XR_943416.3:n.2283+99C>A
NM_013382.6:c.2032+99C>A NP_037514.2:n.2032+99C>A
NM_013382.7:c.2032+99C>A MANE Select NP_037514.2:n.2032+99C>A