Canonical Allele Identifier: CA390517702

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77753122T>A (hg19) ; chr14:g.77286779T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286779T>A , CM000676.2:g.77286779T>A	GRCh38
NC_000014.8:g.77753122T>A , CM000676.1:g.77753122T>A	GRCh37
NC_000014.7:g.76822875T>A	NCBI36
NG_008897.1:g.39104A>T , LRG_844:g.39104A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.838A>T	ENSP00000451967.2:p.Thr280Ser
ENST00000682247.1:c.1297A>T	ENSP00000507213.1:p.Thr433Ser
ENST00000682382.1:c.869A>T
ENST00000682395.1:n.1475A>T
ENST00000682459.1:n.1000A>T
ENST00000682467.1:c.1297A>T	ENSP00000508062.1:p.Thr433Ser
ENST00000682706.1:n.74A>T
ENST00000682795.1:c.1297A>T	ENSP00000507574.1:p.Thr433Ser
ENST00000682895.1:n.1013A>T
ENST00000682955.1:n.585A>T
ENST00000683188.1:c.1272A>T
ENST00000683328.1:c.290A>T	ENSP00000508096.1:n.290A>T
ENST00000683380.1:n.961A>T
ENST00000683828.1:c.1006A>T
ENST00000684259.1:n.1148A>T
ENST00000684444.1:c.44A>T
ENST00000684549.1:n.848A>T
ENST00000261534.9:c.1297A>T MANE Select	ENSP00000261534.4:p.Thr433Ser
ENST00000261534.8:c.1297A>T	ENSP00000261534.4:p.Thr433Ser
ENST00000452340.7:n.1320A>T
ENST00000553880.5:n.168A>T
ENST00000554767.5:n.2083A>T
ENST00000554884.5:n.289A>T
ENST00000556404.1:n.431A>T
ENST00000556851.1:n.333A>T
ENST00000557675.5:n.387A>T
NM_013382.5:c.1297A>T , LRG_844t1:c.1297A>T	NP_037514.2:p.Thr433Ser
XM_011536675.1:c.1297A>T	XP_011534977.1:p.Thr433Ser
XM_011536676.1:c.964A>T	XP_011534978.1:p.Thr322Ser
XM_011536677.1:c.838A>T	XP_011534979.1:p.Thr280Ser
XM_011536678.1:c.1297A>T	XP_011534980.1:p.Thr433Ser
XM_011536679.1:c.391A>T	XP_011534981.1:p.Thr131Ser
XR_943416.1:n.1500A>T
XM_011536675.2:c.1297A>T	XP_011534977.1:p.Thr433Ser
XM_011536676.2:c.964A>T	XP_011534978.1:p.Thr322Ser
XM_011536677.3:c.838A>T	XP_011534979.1:p.Thr280Ser
XR_001750279.1:n.1497A>T
XR_001750282.1:n.1950A>T
XR_943416.3:n.1498A>T
NM_013382.6:c.1297A>T	NP_037514.2:p.Thr433Ser
NM_013382.7:c.1297A>T MANE Select	NP_037514.2:p.Thr433Ser