Canonical Allele Identifier: CA390514177

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745185C>A (hg19) ; chr14:g.77278842C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278842C>A , CM000676.2:g.77278842C>A	GRCh38
NC_000014.8:g.77745185C>A , CM000676.1:g.77745185C>A	GRCh37
NC_000014.7:g.76814938C>A	NCBI36
NG_008897.1:g.47041G>T , LRG_844:g.47041G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.844G>T
ENST00000556394.2:c.1460G>T	ENSP00000451967.2:p.Gly487Val
ENST00000682128.1:c.220G>T	ENSP00000506976.1:n.220G>T
ENST00000682247.1:c.1908G>T	ENSP00000507213.1:p.Arg636Ser
ENST00000682395.1:n.2383G>T
ENST00000682459.1:n.1622G>T
ENST00000682467.1:c.1892-334G>T	ENSP00000508062.1:n.1892-334G>T
ENST00000682615.1:n.273G>T
ENST00000682795.1:c.2066G>T	ENSP00000507574.1:p.Gly689Val
ENST00000682895.1:n.1635G>T
ENST00000682955.1:n.1493G>T
ENST00000683095.1:c.325G>T	ENSP00000508040.1:n.325G>T
ENST00000683188.1:c.2180G>T
ENST00000683380.1:n.1583G>T
ENST00000683828.1:c.1628G>T
ENST00000683907.1:c.184G>T	ENSP00000507754.1:p.Ala62Ser
ENST00000684172.1:c.295G>T	ENSP00000508391.1:n.295G>T
ENST00000684259.1:n.3686G>T
ENST00000684538.1:n.1298G>T
ENST00000684549.1:n.1470G>T
ENST00000261534.9:c.1919G>T MANE Select	ENSP00000261534.4:p.Gly640Val
ENST00000261534.8:c.1919G>T	ENSP00000261534.4:p.Gly640Val
ENST00000452340.7:n.2895G>T
ENST00000554767.5:n.2705G>T
ENST00000555134.1:n.844G>T
ENST00000555710.1:c.280G>T	ENSP00000451730.1:n.280G>T
ENST00000556171.1:c.511G>T
ENST00000556394.1:c.88-334G>T
ENST00000556446.1:n.220G>T
ENST00000602717.5:c.134G>T	ENSP00000487704.1:p.Gly45Val
NM_013382.5:c.1919G>T , LRG_844t1:c.1919G>T	NP_037514.2:p.Gly640Val
XM_011536675.1:c.2108G>T	XP_011534977.1:p.Gly703Val
XM_011536676.1:c.1775G>T	XP_011534978.1:p.Gly592Val
XM_011536677.1:c.1649G>T	XP_011534979.1:p.Gly550Val
XM_011536679.1:c.1202G>T	XP_011534981.1:p.Gly401Val
XR_943416.1:n.2172G>T
XM_011536675.2:c.2108G>T	XP_011534977.1:p.Gly703Val
XM_011536676.2:c.1775G>T	XP_011534978.1:p.Gly592Val
XM_011536677.3:c.1649G>T	XP_011534979.1:p.Gly550Val
XR_001750279.1:n.2205G>T
XR_001750282.1:n.2858G>T
XR_943416.3:n.2170G>T
NM_013382.6:c.1919G>T	NP_037514.2:p.Gly640Val
NM_013382.7:c.1919G>T MANE Select	NP_037514.2:p.Gly640Val