Canonical Allele Identifier: CA390518206

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77288772C>A , CM000676.2:g.77288772C>A	GRCh38
NC_000014.8:g.77755115C>A , CM000676.1:g.77755115C>A	GRCh37
NC_000014.7:g.76824868C>A	NCBI36
NG_008897.1:g.37111G>T , LRG_844:g.37111G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_013382.7:c.1243G>T MANE Select	NP_037514.2:p.Glu415Ter
ENST00000261534.9:c.1243G>T MANE Select	ENSP00000261534.4:p.Glu415Ter
NM_013382.5:c.1243G>T , LRG_844t1:c.1243G>T	NP_037514.2:p.Glu415Ter
NM_013382.6:c.1243G>T	NP_037514.2:p.Glu415Ter
ENST00000261534.8:c.1243G>T	ENSP00000261534.4:p.Glu415Ter
ENST00000452340.7:n.1266G>T
ENST00000553880.5:n.114G>T
ENST00000554767.5:n.2029G>T
ENST00000556394.2:c.784G>T	ENSP00000451967.2:p.Glu262Ter
ENST00000556851.1:n.240G>T
ENST00000557675.5:n.333G>T
ENST00000682247.1:c.1243G>T	ENSP00000507213.1:p.Glu415Ter
ENST00000682382.1:c.815G>T
ENST00000682395.1:n.972G>T
ENST00000682459.1:n.907G>T
ENST00000682467.1:c.1243G>T	ENSP00000508062.1:p.Glu415Ter
ENST00000682795.1:c.1243G>T	ENSP00000507574.1:p.Glu415Ter
ENST00000682895.1:n.959G>T
ENST00000682955.1:n.531G>T
ENST00000683188.1:c.769G>T
ENST00000683328.1:c.236G>T	ENSP00000508096.1:n.236G>T
ENST00000683380.1:n.907G>T
ENST00000683828.1:c.952G>T
ENST00000684259.1:n.1094G>T
ENST00000684549.1:n.794G>T
XM_011536675.1:c.1243G>T	XP_011534977.1:p.Glu415Ter
XM_011536675.2:c.1243G>T	XP_011534977.1:p.Glu415Ter
XM_011536676.1:c.910G>T	XP_011534978.1:p.Glu304Ter
XM_011536676.2:c.910G>T	XP_011534978.1:p.Glu304Ter
XM_011536677.1:c.784G>T	XP_011534979.1:p.Glu262Ter
XM_011536677.3:c.784G>T	XP_011534979.1:p.Glu262Ter
XM_011536678.1:c.1243G>T	XP_011534980.1:p.Glu415Ter
XM_011536679.1:c.337G>T	XP_011534981.1:p.Glu113Ter
XM_011536680.1:c.1243G>T	XP_011534982.1:p.Glu415Ter
XR_001750279.1:n.1443G>T
XR_001750282.1:n.1447G>T
XR_943416.1:n.1446G>T
XR_943416.3:n.1444G>T