Canonical Allele Identifier: CA2575587554
Gene: POMT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77278707A>C , CM000676.2:g.77278707A>C GRCh38
NC_000014.8:g.77745050A>C , CM000676.1:g.77745050A>C GRCh37
NC_000014.7:g.76814803A>C NCBI36
NG_008897.1:g.47176T>G , LRG_844:g.47176T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000555134.2:n.957+22T>G
ENST00000556394.2:c.1573+22T>G ENSP00000451967.2:n.1573+22T>G
ENST00000682247.1:c.2021+22T>G ENSP00000507213.1:n.2021+22T>G
ENST00000682395.1:n.2496+22T>G
ENST00000682459.1:n.1735+22T>G
ENST00000682467.1:c.1892-199T>G ENSP00000508062.1:n.1892-199T>G
ENST00000682795.1:c.2179+22T>G ENSP00000507574.1:n.2179+22T>G
ENST00000682895.1:n.1748+22T>G
ENST00000682955.1:n.1606+22T>G
ENST00000683188.1:c.2293+22T>G
ENST00000683380.1:n.1696+22T>G
ENST00000683907.1:c.297+22T>G ENSP00000507754.1:n.297+22T>G
ENST00000684259.1:n.3799+22T>G
ENST00000684538.1:n.1411+22T>G
ENST00000684549.1:n.1583+22T>G
ENST00000261534.9:c.2032+22T>G MANE Select ENSP00000261534.4:n.2032+22T>G
ENST00000261534.8:c.2032+22T>G ENSP00000261534.4:n.2032+22T>G
ENST00000452340.7:n.3008+22T>G
ENST00000554767.5:n.2818+22T>G
ENST00000555710.1:c.393+22T>G ENSP00000451730.1:n.393+22T>G
ENST00000556394.1:c.88-199T>G
ENST00000556446.1:n.333+22T>G
ENST00000602717.5:c.247+22T>G ENSP00000487704.1:n.247+22T>G
NM_013382.5:c.2032+22T>G , LRG_844t1:c.2032+22T>G NP_037514.2:n.2032+22T>G
XM_011536675.1:c.2221+22T>G XP_011534977.1:n.2221+22T>G
XM_011536676.1:c.1888+22T>G XP_011534978.1:n.1888+22T>G
XM_011536677.1:c.1762+22T>G XP_011534979.1:n.1762+22T>G
XM_011536679.1:c.1315+22T>G XP_011534981.1:n.1315+22T>G
XR_943416.1:n.2285+22T>G
XM_011536675.2:c.2221+22T>G XP_011534977.1:n.2221+22T>G
XM_011536676.2:c.1888+22T>G XP_011534978.1:n.1888+22T>G
XM_011536677.3:c.1762+22T>G XP_011534979.1:n.1762+22T>G
XR_001750279.1:n.2318+22T>G
XR_001750282.1:n.2971+22T>G
XR_943416.3:n.2283+22T>G
NM_013382.6:c.2032+22T>G NP_037514.2:n.2032+22T>G
NM_013382.7:c.2032+22T>G MANE Select NP_037514.2:n.2032+22T>G