Canonical Allele Identifier: CA390516843

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77284971C>A , CM000676.2:g.77284971C>A	GRCh38
NC_000014.8:g.77751314C>A , CM000676.1:g.77751314C>A	GRCh37
NC_000014.7:g.76821067C>A	NCBI36
NG_008897.1:g.40912G>T , LRG_844:g.40912G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_013382.7:c.1555G>T MANE Select	NP_037514.2:p.Glu519Ter
ENST00000261534.9:c.1555G>T MANE Select	ENSP00000261534.4:p.Glu519Ter
NM_013382.5:c.1555G>T , LRG_844t1:c.1555G>T	NP_037514.2:p.Glu519Ter
NM_013382.6:c.1555G>T	NP_037514.2:p.Glu519Ter
ENST00000261534.8:c.1555G>T	ENSP00000261534.4:p.Glu519Ter
ENST00000452340.7:n.1578G>T
ENST00000554767.5:n.2341G>T
ENST00000554884.5:n.547G>T
ENST00000555134.1:n.194G>T
ENST00000555134.2:n.194G>T
ENST00000556394.2:c.1096G>T	ENSP00000451967.2:p.Glu366Ter
ENST00000682247.1:c.1555G>T	ENSP00000507213.1:p.Glu519Ter
ENST00000682382.1:c.1127G>T
ENST00000682395.1:n.1733G>T
ENST00000682459.1:n.1258G>T
ENST00000682467.1:c.1555G>T	ENSP00000508062.1:p.Glu519Ter
ENST00000682560.1:c.152+510G>T	ENSP00000507033.1:n.152+510G>T
ENST00000682729.1:c.71G>T
ENST00000682795.1:c.1555G>T	ENSP00000507574.1:p.Glu519Ter
ENST00000682891.1:n.71G>T
ENST00000682895.1:n.1271G>T
ENST00000682955.1:n.843G>T
ENST00000683188.1:c.1530G>T
ENST00000683380.1:n.1219G>T
ENST00000683801.1:n.71G>T
ENST00000683828.1:c.1264G>T
ENST00000684009.1:n.71G>T
ENST00000684259.1:n.1406G>T
ENST00000684444.1:c.306G>T
ENST00000684549.1:n.1106G>T
XM_011536675.1:c.1555G>T	XP_011534977.1:p.Glu519Ter
XM_011536675.2:c.1555G>T	XP_011534977.1:p.Glu519Ter
XM_011536676.1:c.1222G>T	XP_011534978.1:p.Glu408Ter
XM_011536676.2:c.1222G>T	XP_011534978.1:p.Glu408Ter
XM_011536677.1:c.1096G>T	XP_011534979.1:p.Glu366Ter
XM_011536677.3:c.1096G>T	XP_011534979.1:p.Glu366Ter
XM_011536678.1:c.1555G>T	XP_011534980.1:p.Glu519Ter
XM_011536679.1:c.649G>T	XP_011534981.1:p.Glu217Ter
XR_001750279.1:n.1755G>T
XR_001750282.1:n.2208G>T
XR_943416.1:n.1758G>T
XR_943416.3:n.1756G>T