Canonical Allele Identifier: CA487509457

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745166G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278823G>T , CM000676.2:g.77278823G>T	GRCh38
NC_000014.8:g.77745166G>T , CM000676.1:g.77745166G>T	GRCh37
NC_000014.7:g.76814919G>T	NCBI36
NG_008897.1:g.47060C>A , LRG_844:g.47060C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.863C>A
ENST00000556394.2:c.1479C>A	ENSP00000451967.2:p.Gly493=
ENST00000682128.1:c.239C>A	ENSP00000506976.1:n.239C>A
ENST00000682247.1:c.1927C>A	ENSP00000507213.1:p.Leu643Met
ENST00000682395.1:n.2402C>A
ENST00000682459.1:n.1641C>A
ENST00000682467.1:c.1892-315C>A	ENSP00000508062.1:n.1892-315C>A
ENST00000682615.1:n.292C>A
ENST00000682795.1:c.2085C>A	ENSP00000507574.1:p.Gly695=
ENST00000682895.1:n.1654C>A
ENST00000682955.1:n.1512C>A
ENST00000683095.1:c.344C>A	ENSP00000508040.1:n.344C>A
ENST00000683188.1:c.2199C>A
ENST00000683380.1:n.1602C>A
ENST00000683828.1:c.1647C>A
ENST00000683907.1:c.203C>A	ENSP00000507754.1:p.Ala68Asp
ENST00000684172.1:c.314C>A	ENSP00000508391.1:n.314C>A
ENST00000684259.1:n.3705C>A
ENST00000684538.1:n.1317C>A
ENST00000684549.1:n.1489C>A
ENST00000261534.9:c.1938C>A MANE Select	ENSP00000261534.4:p.Gly646=
ENST00000261534.8:c.1938C>A	ENSP00000261534.4:p.Gly646=
ENST00000452340.7:n.2914C>A
ENST00000554767.5:n.2724C>A
ENST00000555134.1:n.863C>A
ENST00000555710.1:c.299C>A	ENSP00000451730.1:n.299C>A
ENST00000556171.1:c.530C>A
ENST00000556394.1:c.88-315C>A
ENST00000556446.1:n.239C>A
ENST00000602717.5:c.153C>A	ENSP00000487704.1:p.Gly51=
NM_013382.5:c.1938C>A , LRG_844t1:c.1938C>A	NP_037514.2:p.Gly646=
XM_011536675.1:c.2127C>A	XP_011534977.1:p.Gly709=
XM_011536676.1:c.1794C>A	XP_011534978.1:p.Gly598=
XM_011536677.1:c.1668C>A	XP_011534979.1:p.Gly556=
XM_011536679.1:c.1221C>A	XP_011534981.1:p.Gly407=
XR_943416.1:n.2191C>A
XM_011536675.2:c.2127C>A	XP_011534977.1:p.Gly709=
XM_011536676.2:c.1794C>A	XP_011534978.1:p.Gly598=
XM_011536677.3:c.1668C>A	XP_011534979.1:p.Gly556=
XR_001750279.1:n.2224C>A
XR_001750282.1:n.2877C>A
XR_943416.3:n.2189C>A
NM_013382.6:c.1938C>A	NP_037514.2:p.Gly646=
NM_013382.7:c.1938C>A MANE Select	NP_037514.2:p.Gly646=