Canonical Allele Identifier: CA390518244

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77288778G>A , CM000676.2:g.77288778G>A	GRCh38
NC_000014.8:g.77755121G>A , CM000676.1:g.77755121G>A	GRCh37
NC_000014.7:g.76824874G>A	NCBI36
NG_008897.1:g.37105C>T , LRG_844:g.37105C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_013382.7:c.1237C>T MANE Select	NP_037514.2:p.Arg413Ter
ENST00000261534.9:c.1237C>T MANE Select	ENSP00000261534.4:p.Arg413Ter
NM_013382.5:c.1237C>T , LRG_844t1:c.1237C>T	NP_037514.2:p.Arg413Ter
NM_013382.6:c.1237C>T	NP_037514.2:p.Arg413Ter
ENST00000261534.8:c.1237C>T	ENSP00000261534.4:p.Arg413Ter
ENST00000452340.7:n.1260C>T
ENST00000553880.5:n.108C>T
ENST00000554767.5:n.2023C>T
ENST00000556394.2:c.778C>T	ENSP00000451967.2:p.Arg260Ter
ENST00000556851.1:n.234C>T
ENST00000557675.5:n.327C>T
ENST00000682247.1:c.1237C>T	ENSP00000507213.1:p.Arg413Ter
ENST00000682382.1:c.809C>T
ENST00000682395.1:n.966C>T
ENST00000682459.1:n.901C>T
ENST00000682467.1:c.1237C>T	ENSP00000508062.1:p.Arg413Ter
ENST00000682795.1:c.1237C>T	ENSP00000507574.1:p.Arg413Ter
ENST00000682895.1:n.953C>T
ENST00000682955.1:n.525C>T
ENST00000683188.1:c.763C>T
ENST00000683328.1:c.230C>T	ENSP00000508096.1:n.230C>T
ENST00000683380.1:n.901C>T
ENST00000683828.1:c.946C>T
ENST00000684259.1:n.1088C>T
ENST00000684549.1:n.788C>T
XM_011536675.1:c.1237C>T	XP_011534977.1:p.Arg413Ter
XM_011536675.2:c.1237C>T	XP_011534977.1:p.Arg413Ter
XM_011536676.1:c.904C>T	XP_011534978.1:p.Arg302Ter
XM_011536676.2:c.904C>T	XP_011534978.1:p.Arg302Ter
XM_011536677.1:c.778C>T	XP_011534979.1:p.Arg260Ter
XM_011536677.3:c.778C>T	XP_011534979.1:p.Arg260Ter
XM_011536678.1:c.1237C>T	XP_011534980.1:p.Arg413Ter
XM_011536679.1:c.331C>T	XP_011534981.1:p.Arg111Ter
XM_011536680.1:c.1237C>T	XP_011534982.1:p.Arg413Ter
XR_001750279.1:n.1437C>T
XR_001750282.1:n.1441C>T
XR_943416.1:n.1440C>T
XR_943416.3:n.1438C>T