Canonical Allele Identifier: CA390504652

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77320555T>A , CM000676.2:g.77320555T>A	GRCh38
NC_000014.8:g.77786898T>A , CM000676.1:g.77786898T>A	GRCh37
NC_000014.7:g.76856651T>A	NCBI36
NG_008897.1:g.5328A>T , LRG_844:g.5328A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_013382.7:c.127A>T MANE Select	NP_037514.2:p.Lys43Ter
ENST00000261534.9:c.127A>T MANE Select	ENSP00000261534.4:p.Lys43Ter
NM_013382.5:c.127A>T , LRG_844t1:c.127A>T	NP_037514.2:p.Lys43Ter
NM_013382.6:c.127A>T	NP_037514.2:p.Lys43Ter
ENST00000261534.8:c.127A>T	ENSP00000261534.4:p.Lys43Ter
ENST00000452340.7:n.150A>T
ENST00000556326.5:c.127A>T	ENSP00000450630.1:p.Lys43Ter
ENST00000556394.2:c.127A>T	ENSP00000451967.2:p.Lys43Ter
ENST00000682247.1:c.127A>T	ENSP00000507213.1:p.Lys43Ter
ENST00000682382.1:c.75A>T
ENST00000682467.1:c.127A>T	ENSP00000508062.1:p.Lys43Ter
ENST00000682795.1:c.127A>T	ENSP00000507574.1:p.Lys43Ter
ENST00000684344.1:c.127A>T	ENSP00000507432.1:p.Lys43Ter
ENST00000684534.1:n.150A>T
XM_011536675.1:c.127A>T	XP_011534977.1:p.Lys43Ter
XM_011536675.2:c.127A>T	XP_011534977.1:p.Lys43Ter
XM_011536676.1:c.-122A>T	XP_011534978.1:n.-122A>T
XM_011536676.2:c.-122A>T	XP_011534978.1:n.-122A>T
XM_011536677.1:c.127A>T	XP_011534979.1:p.Lys43Ter
XM_011536677.3:c.127A>T	XP_011534979.1:p.Lys43Ter
XM_011536678.1:c.127A>T	XP_011534980.1:p.Lys43Ter
XM_011536680.1:c.127A>T	XP_011534982.1:p.Lys43Ter
XR_001750279.1:n.327A>T
XR_001750282.1:n.331A>T
XR_943416.1:n.330A>T
XR_943416.3:n.328A>T