Canonical Allele Identifier: CA390514155

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745179T>G (hg19) ; chr14:g.77278836T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278836T>G , CM000676.2:g.77278836T>G	GRCh38
NC_000014.8:g.77745179T>G , CM000676.1:g.77745179T>G	GRCh37
NC_000014.7:g.76814932T>G	NCBI36
NG_008897.1:g.47047A>C , LRG_844:g.47047A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.850A>C
ENST00000556394.2:c.1466A>C	ENSP00000451967.2:p.Gln489Pro
ENST00000682128.1:c.226A>C	ENSP00000506976.1:n.226A>C
ENST00000682247.1:c.1914A>C	ENSP00000507213.1:p.Pro638=
ENST00000682395.1:n.2389A>C
ENST00000682459.1:n.1628A>C
ENST00000682467.1:c.1892-328A>C	ENSP00000508062.1:n.1892-328A>C
ENST00000682615.1:n.279A>C
ENST00000682795.1:c.2072A>C	ENSP00000507574.1:p.Gln691Pro
ENST00000682895.1:n.1641A>C
ENST00000682955.1:n.1499A>C
ENST00000683095.1:c.331A>C	ENSP00000508040.1:n.331A>C
ENST00000683188.1:c.2186A>C
ENST00000683380.1:n.1589A>C
ENST00000683828.1:c.1634A>C
ENST00000683907.1:c.190A>C	ENSP00000507754.1:p.Arg64=
ENST00000684172.1:c.301A>C	ENSP00000508391.1:n.301A>C
ENST00000684259.1:n.3692A>C
ENST00000684538.1:n.1304A>C
ENST00000684549.1:n.1476A>C
ENST00000261534.9:c.1925A>C MANE Select	ENSP00000261534.4:p.Gln642Pro
ENST00000261534.8:c.1925A>C	ENSP00000261534.4:p.Gln642Pro
ENST00000452340.7:n.2901A>C
ENST00000554767.5:n.2711A>C
ENST00000555134.1:n.850A>C
ENST00000555710.1:c.286A>C	ENSP00000451730.1:n.286A>C
ENST00000556171.1:c.517A>C
ENST00000556394.1:c.88-328A>C
ENST00000556446.1:n.226A>C
ENST00000602717.5:c.140A>C	ENSP00000487704.1:p.Gln47Pro
NM_013382.5:c.1925A>C , LRG_844t1:c.1925A>C	NP_037514.2:p.Gln642Pro
XM_011536675.1:c.2114A>C	XP_011534977.1:p.Gln705Pro
XM_011536676.1:c.1781A>C	XP_011534978.1:p.Gln594Pro
XM_011536677.1:c.1655A>C	XP_011534979.1:p.Gln552Pro
XM_011536679.1:c.1208A>C	XP_011534981.1:p.Gln403Pro
XR_943416.1:n.2178A>C
XM_011536675.2:c.2114A>C	XP_011534977.1:p.Gln705Pro
XM_011536676.2:c.1781A>C	XP_011534978.1:p.Gln594Pro
XM_011536677.3:c.1655A>C	XP_011534979.1:p.Gln552Pro
XR_001750279.1:n.2211A>C
XR_001750282.1:n.2864A>C
XR_943416.3:n.2176A>C
NM_013382.6:c.1925A>C	NP_037514.2:p.Gln642Pro
NM_013382.7:c.1925A>C MANE Select	NP_037514.2:p.Gln642Pro