Canonical Allele Identifier: CA7285589

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278825C>T , CM000676.2:g.77278825C>T	GRCh38
NC_000014.8:g.77745168C>T , CM000676.1:g.77745168C>T	GRCh37
NC_000014.7:g.76814921C>T	NCBI36
NG_008897.1:g.47058G>A , LRG_844:g.47058G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.861G>A
ENST00000556394.2:c.1477G>A	ENSP00000451967.2:p.Gly493Ser
ENST00000682128.1:c.237G>A	ENSP00000506976.1:n.237G>A
ENST00000682247.1:c.1925G>A	ENSP00000507213.1:p.Arg642Gln
ENST00000682395.1:n.2400G>A
ENST00000682459.1:n.1639G>A
ENST00000682467.1:c.1892-317G>A	ENSP00000508062.1:n.1892-317G>A
ENST00000682615.1:n.290G>A
ENST00000682795.1:c.2083G>A	ENSP00000507574.1:p.Gly695Ser
ENST00000682895.1:n.1652G>A
ENST00000682955.1:n.1510G>A
ENST00000683095.1:c.342G>A	ENSP00000508040.1:n.342G>A
ENST00000683188.1:c.2197G>A
ENST00000683380.1:n.1600G>A
ENST00000683828.1:c.1645G>A
ENST00000683907.1:c.201G>A	ENSP00000507754.1:p.Ser67=
ENST00000684172.1:c.312G>A	ENSP00000508391.1:n.312G>A
ENST00000684259.1:n.3703G>A
ENST00000684538.1:n.1315G>A
ENST00000684549.1:n.1487G>A
ENST00000261534.9:c.1936G>A MANE Select	ENSP00000261534.4:p.Gly646Ser
ENST00000261534.8:c.1936G>A	ENSP00000261534.4:p.Gly646Ser
ENST00000452340.7:n.2912G>A
ENST00000554767.5:n.2722G>A
ENST00000555134.1:n.861G>A
ENST00000555710.1:c.297G>A	ENSP00000451730.1:n.297G>A
ENST00000556171.1:c.528G>A
ENST00000556394.1:c.88-317G>A
ENST00000556446.1:n.237G>A
ENST00000602717.5:c.151G>A	ENSP00000487704.1:p.Gly51Ser
NM_013382.5:c.1936G>A , LRG_844t1:c.1936G>A	NP_037514.2:p.Gly646Ser
XM_011536675.1:c.2125G>A	XP_011534977.1:p.Gly709Ser
XM_011536676.1:c.1792G>A	XP_011534978.1:p.Gly598Ser
XM_011536677.1:c.1666G>A	XP_011534979.1:p.Gly556Ser
XM_011536679.1:c.1219G>A	XP_011534981.1:p.Gly407Ser
XR_943416.1:n.2189G>A
XM_011536675.2:c.2125G>A	XP_011534977.1:p.Gly709Ser
XM_011536676.2:c.1792G>A	XP_011534978.1:p.Gly598Ser
XM_011536677.3:c.1666G>A	XP_011534979.1:p.Gly556Ser
XR_001750279.1:n.2222G>A
XR_001750282.1:n.2875G>A
XR_943416.3:n.2187G>A
NM_013382.6:c.1936G>A	NP_037514.2:p.Gly646Ser
NM_013382.7:c.1936G>A MANE Select	NP_037514.2:p.Gly646Ser