Canonical Allele Identifier: CA390520336

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77767560C>A (hg19) ; chr14:g.77301217C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77301217C>A , CM000676.2:g.77301217C>A	GRCh38
NC_000014.8:g.77767560C>A , CM000676.1:g.77767560C>A	GRCh37
NC_000014.7:g.76837313C>A	NCBI36
NG_008897.1:g.24666G>T , LRG_844:g.24666G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553863.6:c.142G>T	ENSP00000508202.1:p.Ala48Ser
ENST00000556394.2:c.358-1656G>T	ENSP00000451967.2:n.358-1656G>T
ENST00000556880.6:n.713G>T
ENST00000557289.2:c.33G>T
ENST00000682247.1:c.689G>T	ENSP00000507213.1:p.Ser230Ile
ENST00000682382.1:c.496-2446G>T
ENST00000682395.1:n.418G>T
ENST00000682459.1:n.353G>T
ENST00000682467.1:c.689G>T	ENSP00000508062.1:p.Ser230Ile
ENST00000682795.1:c.689G>T	ENSP00000507574.1:p.Ser230Ile
ENST00000682895.1:n.405G>T
ENST00000682955.1:n.212-2446G>T
ENST00000683167.1:c.33G>T
ENST00000683188.1:c.343-1656G>T
ENST00000683300.1:c.109+3475G>T	ENSP00000507630.1:n.109+3475G>T
ENST00000683328.1:c.109+3475G>T	ENSP00000508096.1:n.109+3475G>T
ENST00000683380.1:n.353G>T
ENST00000683398.1:c.33G>T
ENST00000683551.1:c.109+1618G>T
ENST00000683828.1:c.525+1618G>T
ENST00000684259.1:n.540G>T
ENST00000684549.1:n.368-1656G>T
ENST00000684554.1:c.33G>T
ENST00000261534.9:c.689G>T MANE Select	ENSP00000261534.4:p.Ser230Ile
ENST00000261534.8:c.689G>T	ENSP00000261534.4:p.Ser230Ile
ENST00000452340.7:n.712G>T
ENST00000553863.5:n.353G>T
ENST00000555675.5:n.405G>T
ENST00000556326.5:c.*355G>T	ENSP00000450630.1:n.*355G>T
ENST00000557289.1:c.56-1656G>T	ENSP00000451115.1:n.56-1656G>T
NM_013382.5:c.689G>T , LRG_844t1:c.689G>T	NP_037514.2:p.Ser230Ile
XM_011536675.1:c.689G>T	XP_011534977.1:p.Ser230Ile
XM_011536676.1:c.356G>T	XP_011534978.1:p.Ser119Ile
XM_011536677.1:c.547+3475G>T	XP_011534979.1:n.547+3475G>T
XM_011536678.1:c.689G>T	XP_011534980.1:p.Ser230Ile
XM_011536679.1:c.-90-1656G>T	XP_011534981.1:n.-90-1656G>T
XM_011536680.1:c.689G>T	XP_011534982.1:p.Ser230Ile
XR_943416.1:n.892G>T
XM_011536675.2:c.689G>T	XP_011534977.1:p.Ser230Ile
XM_011536676.2:c.356G>T	XP_011534978.1:p.Ser119Ile
XM_011536677.3:c.547+3475G>T	XP_011534979.1:n.547+3475G>T
XR_001750279.1:n.889G>T
XR_001750282.1:n.893G>T
XR_943416.3:n.890G>T
NM_013382.6:c.689G>T	NP_037514.2:p.Ser230Ile
NM_013382.7:c.689G>T MANE Select	NP_037514.2:p.Ser230Ile