Canonical Allele Identifier: CA487509373

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745127C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278784C>T , CM000676.2:g.77278784C>T	GRCh38
NC_000014.8:g.77745127C>T , CM000676.1:g.77745127C>T	GRCh37
NC_000014.7:g.76814880C>T	NCBI36
NG_008897.1:g.47099G>A , LRG_844:g.47099G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.902G>A
ENST00000556394.2:c.1518G>A	ENSP00000451967.2:p.Arg506=
ENST00000682128.1:c.278G>A	ENSP00000506976.1:n.278G>A
ENST00000682247.1:c.1966G>A	ENSP00000507213.1:p.Gly656Ser
ENST00000682395.1:n.2441G>A
ENST00000682459.1:n.1680G>A
ENST00000682467.1:c.1892-276G>A	ENSP00000508062.1:n.1892-276G>A
ENST00000682615.1:n.331G>A
ENST00000682795.1:c.2124G>A	ENSP00000507574.1:p.Arg708=
ENST00000682895.1:n.1693G>A
ENST00000682955.1:n.1551G>A
ENST00000683095.1:c.383G>A	ENSP00000508040.1:n.383G>A
ENST00000683188.1:c.2238G>A
ENST00000683380.1:n.1641G>A
ENST00000683828.1:c.1686G>A
ENST00000683907.1:c.242G>A	ENSP00000507754.1:n.242G>A
ENST00000684172.1:c.353G>A	ENSP00000508391.1:n.353G>A
ENST00000684259.1:n.3744G>A
ENST00000684538.1:n.1356G>A
ENST00000684549.1:n.1528G>A
ENST00000261534.9:c.1977G>A MANE Select	ENSP00000261534.4:p.Arg659=
ENST00000261534.8:c.1977G>A	ENSP00000261534.4:p.Arg659=
ENST00000452340.7:n.2953G>A
ENST00000554767.5:n.2763G>A
ENST00000555710.1:c.338G>A	ENSP00000451730.1:n.338G>A
ENST00000556171.1:c.569G>A
ENST00000556394.1:c.88-276G>A
ENST00000556446.1:n.278G>A
ENST00000602717.5:c.192G>A	ENSP00000487704.1:p.Arg64=
NM_013382.5:c.1977G>A , LRG_844t1:c.1977G>A	NP_037514.2:p.Arg659=
XM_011536675.1:c.2166G>A	XP_011534977.1:p.Arg722=
XM_011536676.1:c.1833G>A	XP_011534978.1:p.Arg611=
XM_011536677.1:c.1707G>A	XP_011534979.1:p.Arg569=
XM_011536679.1:c.1260G>A	XP_011534981.1:p.Arg420=
XR_943416.1:n.2230G>A
XM_011536675.2:c.2166G>A	XP_011534977.1:p.Arg722=
XM_011536676.2:c.1833G>A	XP_011534978.1:p.Arg611=
XM_011536677.3:c.1707G>A	XP_011534979.1:p.Arg569=
XR_001750279.1:n.2263G>A
XR_001750282.1:n.2916G>A
XR_943416.3:n.2228G>A
NM_013382.6:c.1977G>A	NP_037514.2:p.Arg659=
NM_013382.7:c.1977G>A MANE Select	NP_037514.2:p.Arg659=