Canonical Allele Identifier: CA390517137

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77285031G>A , CM000676.2:g.77285031G>A	GRCh38
NC_000014.8:g.77751374G>A , CM000676.1:g.77751374G>A	GRCh37
NC_000014.7:g.76821127G>A	NCBI36
NG_008897.1:g.40852C>T , LRG_844:g.40852C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_013382.7:c.1495C>T MANE Select	NP_037514.2:p.Gln499Ter
ENST00000261534.9:c.1495C>T MANE Select	ENSP00000261534.4:p.Gln499Ter
NM_013382.5:c.1495C>T , LRG_844t1:c.1495C>T	NP_037514.2:p.Gln499Ter
NM_013382.6:c.1495C>T	NP_037514.2:p.Gln499Ter
ENST00000261534.8:c.1495C>T	ENSP00000261534.4:p.Gln499Ter
ENST00000452340.7:n.1518C>T
ENST00000554767.5:n.2281C>T
ENST00000554884.5:n.487C>T
ENST00000555134.1:n.134C>T
ENST00000555134.2:n.134C>T
ENST00000556394.2:c.1036C>T	ENSP00000451967.2:p.Gln346Ter
ENST00000682247.1:c.1495C>T	ENSP00000507213.1:p.Gln499Ter
ENST00000682382.1:c.1067C>T
ENST00000682395.1:n.1673C>T
ENST00000682459.1:n.1198C>T
ENST00000682467.1:c.1495C>T	ENSP00000508062.1:p.Gln499Ter
ENST00000682560.1:c.152+450C>T	ENSP00000507033.1:n.152+450C>T
ENST00000682729.1:c.11C>T
ENST00000682795.1:c.1495C>T	ENSP00000507574.1:p.Gln499Ter
ENST00000682891.1:n.11C>T
ENST00000682895.1:n.1211C>T
ENST00000682955.1:n.783C>T
ENST00000683188.1:c.1470C>T
ENST00000683380.1:n.1159C>T
ENST00000683801.1:n.11C>T
ENST00000683828.1:c.1204C>T
ENST00000684009.1:n.11C>T
ENST00000684259.1:n.1346C>T
ENST00000684444.1:c.246C>T
ENST00000684549.1:n.1046C>T
XM_011536675.1:c.1495C>T	XP_011534977.1:p.Gln499Ter
XM_011536675.2:c.1495C>T	XP_011534977.1:p.Gln499Ter
XM_011536676.1:c.1162C>T	XP_011534978.1:p.Gln388Ter
XM_011536676.2:c.1162C>T	XP_011534978.1:p.Gln388Ter
XM_011536677.1:c.1036C>T	XP_011534979.1:p.Gln346Ter
XM_011536677.3:c.1036C>T	XP_011534979.1:p.Gln346Ter
XM_011536678.1:c.1495C>T	XP_011534980.1:p.Gln499Ter
XM_011536679.1:c.589C>T	XP_011534981.1:p.Gln197Ter
XR_001750279.1:n.1695C>T
XR_001750282.1:n.2148C>T
XR_943416.1:n.1698C>T
XR_943416.3:n.1696C>T