Canonical Allele Identifier: CA390518119

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77288761C>T , CM000676.2:g.77288761C>T	GRCh38
NC_000014.8:g.77755104C>T , CM000676.1:g.77755104C>T	GRCh37
NC_000014.7:g.76824857C>T	NCBI36
NG_008897.1:g.37122G>A , LRG_844:g.37122G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_013382.7:c.1253+1G>A MANE Select	NP_037514.2:n.1253+1G>A
ENST00000261534.9:c.1253+1G>A MANE Select	ENSP00000261534.4:n.1253+1G>A
NM_013382.5:c.1253+1G>A , LRG_844t1:c.1253+1G>A	NP_037514.2:n.1253+1G>A
NM_013382.6:c.1253+1G>A	NP_037514.2:n.1253+1G>A
ENST00000261534.8:c.1253+1G>A	ENSP00000261534.4:n.1253+1G>A
ENST00000452340.7:n.1276+1G>A
ENST00000553880.5:n.124+1G>A
ENST00000554767.5:n.2039+1G>A
ENST00000556394.2:c.794+1G>A	ENSP00000451967.2:n.794+1G>A
ENST00000556851.1:n.250+1G>A
ENST00000557675.5:n.343+1G>A
ENST00000682247.1:c.1253+1G>A	ENSP00000507213.1:n.1253+1G>A
ENST00000682382.1:c.825+1G>A
ENST00000682395.1:n.982+1G>A
ENST00000682459.1:n.917+1G>A
ENST00000682467.1:c.1253+1G>A	ENSP00000508062.1:n.1253+1G>A
ENST00000682795.1:c.1253+1G>A	ENSP00000507574.1:n.1253+1G>A
ENST00000682895.1:n.969+1G>A
ENST00000682955.1:n.541+1G>A
ENST00000683188.1:c.779+1G>A
ENST00000683328.1:c.246+1G>A	ENSP00000508096.1:n.246+1G>A
ENST00000683380.1:n.917+1G>A
ENST00000683828.1:c.962+1G>A
ENST00000684259.1:n.1104+1G>A
ENST00000684549.1:n.804+1G>A
XM_011536675.1:c.1253+1G>A	XP_011534977.1:n.1253+1G>A
XM_011536675.2:c.1253+1G>A	XP_011534977.1:n.1253+1G>A
XM_011536676.1:c.920+1G>A	XP_011534978.1:n.920+1G>A
XM_011536676.2:c.920+1G>A	XP_011534978.1:n.920+1G>A
XM_011536677.1:c.794+1G>A	XP_011534979.1:n.794+1G>A
XM_011536677.3:c.794+1G>A	XP_011534979.1:n.794+1G>A
XM_011536678.1:c.1253+1G>A	XP_011534980.1:n.1253+1G>A
XM_011536679.1:c.347+1G>A	XP_011534981.1:n.347+1G>A
XM_011536680.1:c.1253+1G>A	XP_011534982.1:n.1253+1G>A
XR_001750279.1:n.1453+1G>A
XR_001750282.1:n.1457+1G>A
XR_943416.1:n.1456+1G>A
XR_943416.3:n.1454+1G>A