Canonical Allele Identifier: CA390514095

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745167C>A (hg19) ; chr14:g.77278824C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278824C>A , CM000676.2:g.77278824C>A	GRCh38
NC_000014.8:g.77745167C>A , CM000676.1:g.77745167C>A	GRCh37
NC_000014.7:g.76814920C>A	NCBI36
NG_008897.1:g.47059G>T , LRG_844:g.47059G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.862G>T
ENST00000556394.2:c.1478G>T	ENSP00000451967.2:p.Gly493Val
ENST00000682128.1:c.238G>T	ENSP00000506976.1:n.238G>T
ENST00000682247.1:c.1926G>T	ENSP00000507213.1:p.Arg642=
ENST00000682395.1:n.2401G>T
ENST00000682459.1:n.1640G>T
ENST00000682467.1:c.1892-316G>T	ENSP00000508062.1:n.1892-316G>T
ENST00000682615.1:n.291G>T
ENST00000682795.1:c.2084G>T	ENSP00000507574.1:p.Gly695Val
ENST00000682895.1:n.1653G>T
ENST00000682955.1:n.1511G>T
ENST00000683095.1:c.343G>T	ENSP00000508040.1:n.343G>T
ENST00000683188.1:c.2198G>T
ENST00000683380.1:n.1601G>T
ENST00000683828.1:c.1646G>T
ENST00000683907.1:c.202G>T	ENSP00000507754.1:p.Ala68Ser
ENST00000684172.1:c.313G>T	ENSP00000508391.1:n.313G>T
ENST00000684259.1:n.3704G>T
ENST00000684538.1:n.1316G>T
ENST00000684549.1:n.1488G>T
ENST00000261534.9:c.1937G>T MANE Select	ENSP00000261534.4:p.Gly646Val
ENST00000261534.8:c.1937G>T	ENSP00000261534.4:p.Gly646Val
ENST00000452340.7:n.2913G>T
ENST00000554767.5:n.2723G>T
ENST00000555134.1:n.862G>T
ENST00000555710.1:c.298G>T	ENSP00000451730.1:n.298G>T
ENST00000556171.1:c.529G>T
ENST00000556394.1:c.88-316G>T
ENST00000556446.1:n.238G>T
ENST00000602717.5:c.152G>T	ENSP00000487704.1:p.Gly51Val
NM_013382.5:c.1937G>T , LRG_844t1:c.1937G>T	NP_037514.2:p.Gly646Val
XM_011536675.1:c.2126G>T	XP_011534977.1:p.Gly709Val
XM_011536676.1:c.1793G>T	XP_011534978.1:p.Gly598Val
XM_011536677.1:c.1667G>T	XP_011534979.1:p.Gly556Val
XM_011536679.1:c.1220G>T	XP_011534981.1:p.Gly407Val
XR_943416.1:n.2190G>T
XM_011536675.2:c.2126G>T	XP_011534977.1:p.Gly709Val
XM_011536676.2:c.1793G>T	XP_011534978.1:p.Gly598Val
XM_011536677.3:c.1667G>T	XP_011534979.1:p.Gly556Val
XR_001750279.1:n.2223G>T
XR_001750282.1:n.2876G>T
XR_943416.3:n.2188G>T
NM_013382.6:c.1937G>T	NP_037514.2:p.Gly646Val
NM_013382.7:c.1937G>T MANE Select	NP_037514.2:p.Gly646Val