Canonical Allele Identifier: CA390513944

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745132C>A (hg19) ; chr14:g.77278789C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278789C>A , CM000676.2:g.77278789C>A	GRCh38
NC_000014.8:g.77745132C>A , CM000676.1:g.77745132C>A	GRCh37
NC_000014.7:g.76814885C>A	NCBI36
NG_008897.1:g.47094G>T , LRG_844:g.47094G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.897G>T
ENST00000556394.2:c.1513G>T	ENSP00000451967.2:p.Gly505Cys
ENST00000682128.1:c.273G>T	ENSP00000506976.1:n.273G>T
ENST00000682247.1:c.1961G>T	ENSP00000507213.1:p.Gly654Val
ENST00000682395.1:n.2436G>T
ENST00000682459.1:n.1675G>T
ENST00000682467.1:c.1892-281G>T	ENSP00000508062.1:n.1892-281G>T
ENST00000682615.1:n.326G>T
ENST00000682795.1:c.2119G>T	ENSP00000507574.1:p.Gly707Cys
ENST00000682895.1:n.1688G>T
ENST00000682955.1:n.1546G>T
ENST00000683095.1:c.378G>T	ENSP00000508040.1:n.378G>T
ENST00000683188.1:c.2233G>T
ENST00000683380.1:n.1636G>T
ENST00000683828.1:c.1681G>T
ENST00000683907.1:c.237G>T	ENSP00000507754.1:n.237G>T
ENST00000684172.1:c.348G>T	ENSP00000508391.1:n.348G>T
ENST00000684259.1:n.3739G>T
ENST00000684538.1:n.1351G>T
ENST00000684549.1:n.1523G>T
ENST00000261534.9:c.1972G>T MANE Select	ENSP00000261534.4:p.Gly658Cys
ENST00000261534.8:c.1972G>T	ENSP00000261534.4:p.Gly658Cys
ENST00000452340.7:n.2948G>T
ENST00000554767.5:n.2758G>T
ENST00000555710.1:c.333G>T	ENSP00000451730.1:n.333G>T
ENST00000556171.1:c.564G>T
ENST00000556394.1:c.88-281G>T
ENST00000556446.1:n.273G>T
ENST00000602717.5:c.187G>T	ENSP00000487704.1:p.Gly63Cys
NM_013382.5:c.1972G>T , LRG_844t1:c.1972G>T	NP_037514.2:p.Gly658Cys
XM_011536675.1:c.2161G>T	XP_011534977.1:p.Gly721Cys
XM_011536676.1:c.1828G>T	XP_011534978.1:p.Gly610Cys
XM_011536677.1:c.1702G>T	XP_011534979.1:p.Gly568Cys
XM_011536679.1:c.1255G>T	XP_011534981.1:p.Gly419Cys
XR_943416.1:n.2225G>T
XM_011536675.2:c.2161G>T	XP_011534977.1:p.Gly721Cys
XM_011536676.2:c.1828G>T	XP_011534978.1:p.Gly610Cys
XM_011536677.3:c.1702G>T	XP_011534979.1:p.Gly568Cys
XR_001750279.1:n.2258G>T
XR_001750282.1:n.2911G>T
XR_943416.3:n.2223G>T
NM_013382.6:c.1972G>T	NP_037514.2:p.Gly658Cys
NM_013382.7:c.1972G>T MANE Select	NP_037514.2:p.Gly658Cys