Canonical Allele Identifier: CA390504230

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77320433C>T , CM000676.2:g.77320433C>T	GRCh38
NC_000014.8:g.77786776C>T , CM000676.1:g.77786776C>T	GRCh37
NC_000014.7:g.76856529C>T	NCBI36
NG_008897.1:g.5450G>A , LRG_844:g.5450G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_013382.7:c.248+1G>A MANE Select	NP_037514.2:n.248+1G>A
ENST00000261534.9:c.248+1G>A MANE Select	ENSP00000261534.4:n.248+1G>A
NM_013382.5:c.248+1G>A , LRG_844t1:c.248+1G>A	NP_037514.2:n.248+1G>A
NM_013382.6:c.248+1G>A	NP_037514.2:n.248+1G>A
ENST00000261534.8:c.248+1G>A	ENSP00000261534.4:n.248+1G>A
ENST00000452340.7:n.271+1G>A
ENST00000556326.5:c.248+1G>A	ENSP00000450630.1:n.248+1G>A
ENST00000556394.2:c.248+1G>A	ENSP00000451967.2:n.248+1G>A
ENST00000682247.1:c.248+1G>A	ENSP00000507213.1:n.248+1G>A
ENST00000682382.1:c.196+1G>A
ENST00000682467.1:c.248+1G>A	ENSP00000508062.1:n.248+1G>A
ENST00000682795.1:c.248+1G>A	ENSP00000507574.1:n.248+1G>A
ENST00000683188.1:c.43+1G>A
ENST00000683828.1:c.117+1G>A
ENST00000684344.1:c.249G>A	ENSP00000507432.1:p.Trp83Ter
ENST00000684534.1:n.271+1G>A
XM_011536675.1:c.248+1G>A	XP_011534977.1:n.248+1G>A
XM_011536675.2:c.248+1G>A	XP_011534977.1:n.248+1G>A
XM_011536676.1:c.-1+1G>A	XP_011534978.1:n.-1+1G>A
XM_011536676.2:c.-1+1G>A	XP_011534978.1:n.-1+1G>A
XM_011536677.1:c.248+1G>A	XP_011534979.1:n.248+1G>A
XM_011536677.3:c.248+1G>A	XP_011534979.1:n.248+1G>A
XM_011536678.1:c.248+1G>A	XP_011534980.1:n.248+1G>A
XM_011536680.1:c.248+1G>A	XP_011534982.1:n.248+1G>A
XR_001750279.1:n.448+1G>A
XR_001750282.1:n.452+1G>A
XR_943416.1:n.451+1G>A
XR_943416.3:n.449+1G>A