Canonical Allele Identifier: CA390520930

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77772691C>A (hg19) ; chr14:g.77306348C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77306348C>A , CM000676.2:g.77306348C>A	GRCh38
NC_000014.8:g.77772691C>A , CM000676.1:g.77772691C>A	GRCh37
NC_000014.7:g.76842444C>A	NCBI36
NG_008897.1:g.19535G>T , LRG_844:g.19535G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555675.6:n.156G>T
ENST00000556394.2:c.249-1548G>T	ENSP00000451967.2:n.249-1548G>T
ENST00000556880.6:n.360G>T
ENST00000682247.1:c.427G>T	ENSP00000507213.1:p.Gly143Ter
ENST00000682382.1:c.375G>T
ENST00000682395.1:n.156G>T
ENST00000682459.1:n.102+54G>T
ENST00000682467.1:c.427G>T	ENSP00000508062.1:p.Gly143Ter
ENST00000682795.1:c.427G>T	ENSP00000507574.1:p.Gly143Ter
ENST00000682895.1:n.143G>T
ENST00000682955.1:n.102+54G>T
ENST00000683188.1:c.222G>T
ENST00000683380.1:n.102+54G>T
ENST00000683828.1:c.296G>T
ENST00000684066.1:n.122G>T
ENST00000684102.1:n.173G>T
ENST00000684259.1:n.278G>T
ENST00000684479.1:n.94G>T
ENST00000684549.1:n.156G>T
ENST00000684600.1:c.241G>T
ENST00000684670.1:n.94G>T
ENST00000684746.1:n.124G>T
ENST00000261534.9:c.427G>T MANE Select	ENSP00000261534.4:p.Gly143Ter
ENST00000261534.8:c.427G>T	ENSP00000261534.4:p.Gly143Ter
ENST00000452340.7:n.450G>T
ENST00000553863.5:n.102+54G>T
ENST00000554948.1:c.154G>T	ENSP00000452060.1:p.Gly52Ter
ENST00000555675.5:n.143G>T
ENST00000555788.5:n.261G>T
ENST00000556326.5:c.*93G>T	ENSP00000450630.1:n.*93G>T
ENST00000556880.5:n.360G>T
ENST00000557525.1:n.517G>T
NM_013382.5:c.427G>T , LRG_844t1:c.427G>T	NP_037514.2:p.Gly143Ter
XM_011536675.1:c.427G>T	XP_011534977.1:p.Gly143Ter
XM_011536676.1:c.94G>T	XP_011534978.1:p.Gly32Ter
XM_011536677.1:c.427G>T	XP_011534979.1:p.Gly143Ter
XM_011536678.1:c.427G>T	XP_011534980.1:p.Gly143Ter
XM_011536680.1:c.427G>T	XP_011534982.1:p.Gly143Ter
XR_943416.1:n.630G>T
XM_011536675.2:c.427G>T	XP_011534977.1:p.Gly143Ter
XM_011536676.2:c.94G>T	XP_011534978.1:p.Gly32Ter
XM_011536677.3:c.427G>T	XP_011534979.1:p.Gly143Ter
XR_001750279.1:n.627G>T
XR_001750282.1:n.631G>T
XR_943416.3:n.628G>T
NM_013382.6:c.427G>T	NP_037514.2:p.Gly143Ter
NM_013382.7:c.427G>T MANE Select	NP_037514.2:p.Gly143Ter