Canonical Allele Identifier: CA487509375

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745129G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278786G>T , CM000676.2:g.77278786G>T	GRCh38
NC_000014.8:g.77745129G>T , CM000676.1:g.77745129G>T	GRCh37
NC_000014.7:g.76814882G>T	NCBI36
NG_008897.1:g.47097C>A , LRG_844:g.47097C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.900C>A
ENST00000556394.2:c.1516C>A	ENSP00000451967.2:p.Arg506=
ENST00000682128.1:c.276C>A	ENSP00000506976.1:n.276C>A
ENST00000682247.1:c.1964C>A	ENSP00000507213.1:p.Pro655Gln
ENST00000682395.1:n.2439C>A
ENST00000682459.1:n.1678C>A
ENST00000682467.1:c.1892-278C>A	ENSP00000508062.1:n.1892-278C>A
ENST00000682615.1:n.329C>A
ENST00000682795.1:c.2122C>A	ENSP00000507574.1:p.Arg708=
ENST00000682895.1:n.1691C>A
ENST00000682955.1:n.1549C>A
ENST00000683095.1:c.381C>A	ENSP00000508040.1:n.381C>A
ENST00000683188.1:c.2236C>A
ENST00000683380.1:n.1639C>A
ENST00000683828.1:c.1684C>A
ENST00000683907.1:c.240C>A	ENSP00000507754.1:n.240C>A
ENST00000684172.1:c.351C>A	ENSP00000508391.1:n.351C>A
ENST00000684259.1:n.3742C>A
ENST00000684538.1:n.1354C>A
ENST00000684549.1:n.1526C>A
ENST00000261534.9:c.1975C>A MANE Select	ENSP00000261534.4:p.Arg659=
ENST00000261534.8:c.1975C>A	ENSP00000261534.4:p.Arg659=
ENST00000452340.7:n.2951C>A
ENST00000554767.5:n.2761C>A
ENST00000555710.1:c.336C>A	ENSP00000451730.1:n.336C>A
ENST00000556171.1:c.567C>A
ENST00000556394.1:c.88-278C>A
ENST00000556446.1:n.276C>A
ENST00000602717.5:c.190C>A	ENSP00000487704.1:p.Arg64=
NM_013382.5:c.1975C>A , LRG_844t1:c.1975C>A	NP_037514.2:p.Arg659=
XM_011536675.1:c.2164C>A	XP_011534977.1:p.Arg722=
XM_011536676.1:c.1831C>A	XP_011534978.1:p.Arg611=
XM_011536677.1:c.1705C>A	XP_011534979.1:p.Arg569=
XM_011536679.1:c.1258C>A	XP_011534981.1:p.Arg420=
XR_943416.1:n.2228C>A
XM_011536675.2:c.2164C>A	XP_011534977.1:p.Arg722=
XM_011536676.2:c.1831C>A	XP_011534978.1:p.Arg611=
XM_011536677.3:c.1705C>A	XP_011534979.1:p.Arg569=
XR_001750279.1:n.2261C>A
XR_001750282.1:n.2914C>A
XR_943416.3:n.2226C>A
NM_013382.6:c.1975C>A	NP_037514.2:p.Arg659=
NM_013382.7:c.1975C>A MANE Select	NP_037514.2:p.Arg659=