Canonical Allele Identifier: CA390513898

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745117A>T (hg19) ; chr14:g.77278774A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278774A>T , CM000676.2:g.77278774A>T	GRCh38
NC_000014.8:g.77745117A>T , CM000676.1:g.77745117A>T	GRCh37
NC_000014.7:g.76814870A>T	NCBI36
NG_008897.1:g.47109T>A , LRG_844:g.47109T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.912T>A
ENST00000556394.2:c.1528T>A	ENSP00000451967.2:p.Phe510Ile
ENST00000682128.1:c.288T>A	ENSP00000506976.1:n.288T>A
ENST00000682247.1:c.1976T>A	ENSP00000507213.1:p.Leu659His
ENST00000682395.1:n.2451T>A
ENST00000682459.1:n.1690T>A
ENST00000682467.1:c.1892-266T>A	ENSP00000508062.1:n.1892-266T>A
ENST00000682615.1:n.341T>A
ENST00000682795.1:c.2134T>A	ENSP00000507574.1:p.Phe712Ile
ENST00000682895.1:n.1703T>A
ENST00000682955.1:n.1561T>A
ENST00000683095.1:c.393T>A	ENSP00000508040.1:n.393T>A
ENST00000683188.1:c.2248T>A
ENST00000683380.1:n.1651T>A
ENST00000683907.1:c.252T>A	ENSP00000507754.1:n.252T>A
ENST00000684172.1:c.363T>A	ENSP00000508391.1:n.363T>A
ENST00000684259.1:n.3754T>A
ENST00000684538.1:n.1366T>A
ENST00000684549.1:n.1538T>A
ENST00000261534.9:c.1987T>A MANE Select	ENSP00000261534.4:p.Phe663Ile
ENST00000261534.8:c.1987T>A	ENSP00000261534.4:p.Phe663Ile
ENST00000452340.7:n.2963T>A
ENST00000554767.5:n.2773T>A
ENST00000555710.1:c.348T>A	ENSP00000451730.1:n.348T>A
ENST00000556171.1:c.579T>A
ENST00000556394.1:c.88-266T>A
ENST00000556446.1:n.288T>A
ENST00000602717.5:c.202T>A	ENSP00000487704.1:p.Phe68Ile
NM_013382.5:c.1987T>A , LRG_844t1:c.1987T>A	NP_037514.2:p.Phe663Ile
XM_011536675.1:c.2176T>A	XP_011534977.1:p.Phe726Ile
XM_011536676.1:c.1843T>A	XP_011534978.1:p.Phe615Ile
XM_011536677.1:c.1717T>A	XP_011534979.1:p.Phe573Ile
XM_011536679.1:c.1270T>A	XP_011534981.1:p.Phe424Ile
XR_943416.1:n.2240T>A
XM_011536675.2:c.2176T>A	XP_011534977.1:p.Phe726Ile
XM_011536676.2:c.1843T>A	XP_011534978.1:p.Phe615Ile
XM_011536677.3:c.1717T>A	XP_011534979.1:p.Phe573Ile
XR_001750279.1:n.2273T>A
XR_001750282.1:n.2926T>A
XR_943416.3:n.2238T>A
NM_013382.6:c.1987T>A	NP_037514.2:p.Phe663Ile
NM_013382.7:c.1987T>A MANE Select	NP_037514.2:p.Phe663Ile