Canonical Allele Identifier: CA390514189

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745188C>T (hg19) ; chr14:g.77278845C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278845C>T , CM000676.2:g.77278845C>T	GRCh38
NC_000014.8:g.77745188C>T , CM000676.1:g.77745188C>T	GRCh37
NC_000014.7:g.76814941C>T	NCBI36
NG_008897.1:g.47038G>A , LRG_844:g.47038G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.841G>A
ENST00000556394.2:c.1457G>A	ENSP00000451967.2:p.Gly486Glu
ENST00000682128.1:c.217G>A	ENSP00000506976.1:n.217G>A
ENST00000682247.1:c.1905G>A	ENSP00000507213.1:p.Arg635=
ENST00000682395.1:n.2380G>A
ENST00000682459.1:n.1619G>A
ENST00000682467.1:c.1892-337G>A	ENSP00000508062.1:n.1892-337G>A
ENST00000682615.1:n.270G>A
ENST00000682795.1:c.2063G>A	ENSP00000507574.1:p.Gly688Glu
ENST00000682895.1:n.1632G>A
ENST00000682955.1:n.1490G>A
ENST00000683095.1:c.322G>A	ENSP00000508040.1:n.322G>A
ENST00000683188.1:c.2177G>A
ENST00000683380.1:n.1580G>A
ENST00000683828.1:c.1625G>A
ENST00000683907.1:c.181G>A	ENSP00000507754.1:p.Glu61Lys
ENST00000684172.1:c.292G>A	ENSP00000508391.1:n.292G>A
ENST00000684259.1:n.3683G>A
ENST00000684538.1:n.1295G>A
ENST00000684549.1:n.1467G>A
ENST00000261534.9:c.1916G>A MANE Select	ENSP00000261534.4:p.Gly639Glu
ENST00000261534.8:c.1916G>A	ENSP00000261534.4:p.Gly639Glu
ENST00000452340.7:n.2892G>A
ENST00000554767.5:n.2702G>A
ENST00000555134.1:n.841G>A
ENST00000555710.1:c.277G>A	ENSP00000451730.1:n.277G>A
ENST00000556171.1:c.508G>A
ENST00000556394.1:c.88-337G>A
ENST00000556446.1:n.217G>A
ENST00000602717.5:c.131G>A	ENSP00000487704.1:p.Gly44Glu
NM_013382.5:c.1916G>A , LRG_844t1:c.1916G>A	NP_037514.2:p.Gly639Glu
XM_011536675.1:c.2105G>A	XP_011534977.1:p.Gly702Glu
XM_011536676.1:c.1772G>A	XP_011534978.1:p.Gly591Glu
XM_011536677.1:c.1646G>A	XP_011534979.1:p.Gly549Glu
XM_011536679.1:c.1199G>A	XP_011534981.1:p.Gly400Glu
XR_943416.1:n.2169G>A
XM_011536675.2:c.2105G>A	XP_011534977.1:p.Gly702Glu
XM_011536676.2:c.1772G>A	XP_011534978.1:p.Gly591Glu
XM_011536677.3:c.1646G>A	XP_011534979.1:p.Gly549Glu
XR_001750279.1:n.2202G>A
XR_001750282.1:n.2855G>A
XR_943416.3:n.2167G>A
NM_013382.6:c.1916G>A	NP_037514.2:p.Gly639Glu
NM_013382.7:c.1916G>A MANE Select	NP_037514.2:p.Gly639Glu