Canonical Allele Identifier: CA390517246

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77285480C>T , CM000676.2:g.77285480C>T	GRCh38
NC_000014.8:g.77751823C>T , CM000676.1:g.77751823C>T	GRCh37
NC_000014.7:g.76821576C>T	NCBI36
NG_008897.1:g.40403G>A , LRG_844:g.40403G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_013382.7:c.1484+1G>A MANE Select	NP_037514.2:n.1484+1G>A
ENST00000261534.9:c.1484+1G>A MANE Select	ENSP00000261534.4:n.1484+1G>A
NM_013382.5:c.1484+1G>A , LRG_844t1:c.1484+1G>A	NP_037514.2:n.1484+1G>A
NM_013382.6:c.1484+1G>A	NP_037514.2:n.1484+1G>A
ENST00000261534.8:c.1484+1G>A	ENSP00000261534.4:n.1484+1G>A
ENST00000452340.7:n.1507+1G>A
ENST00000553880.5:n.356G>A
ENST00000554767.5:n.2270+1G>A
ENST00000554884.5:n.476+1G>A
ENST00000555134.1:n.123+1G>A
ENST00000555134.2:n.123+1G>A
ENST00000556394.2:c.1025+1G>A	ENSP00000451967.2:n.1025+1G>A
ENST00000557675.5:n.575G>A
ENST00000682247.1:c.1484+1G>A	ENSP00000507213.1:n.1484+1G>A
ENST00000682382.1:c.1056+1G>A
ENST00000682395.1:n.1662+1G>A
ENST00000682459.1:n.1187+1G>A
ENST00000682467.1:c.1484+1G>A	ENSP00000508062.1:n.1484+1G>A
ENST00000682560.1:c.152+1G>A	ENSP00000507033.1:n.152+1G>A
ENST00000682795.1:c.1484+1G>A	ENSP00000507574.1:n.1484+1G>A
ENST00000682895.1:n.1200+1G>A
ENST00000682955.1:n.772+1G>A
ENST00000683188.1:c.1459+1G>A
ENST00000683380.1:n.1148+1G>A
ENST00000683828.1:c.1193+1G>A
ENST00000684259.1:n.1335+1G>A
ENST00000684444.1:c.235+1G>A
ENST00000684549.1:n.1035+1G>A
XM_011536675.1:c.1484+1G>A	XP_011534977.1:n.1484+1G>A
XM_011536675.2:c.1484+1G>A	XP_011534977.1:n.1484+1G>A
XM_011536676.1:c.1151+1G>A	XP_011534978.1:n.1151+1G>A
XM_011536676.2:c.1151+1G>A	XP_011534978.1:n.1151+1G>A
XM_011536677.1:c.1025+1G>A	XP_011534979.1:n.1025+1G>A
XM_011536677.3:c.1025+1G>A	XP_011534979.1:n.1025+1G>A
XM_011536678.1:c.1484+1G>A	XP_011534980.1:n.1484+1G>A
XM_011536679.1:c.578+1G>A	XP_011534981.1:n.578+1G>A
XR_001750279.1:n.1684+1G>A
XR_001750282.1:n.2137+1G>A
XR_943416.1:n.1687+1G>A
XR_943416.3:n.1685+1G>A