Canonical Allele Identifier: CA390520141

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77301121C>T , CM000676.2:g.77301121C>T	GRCh38
NC_000014.8:g.77767464C>T , CM000676.1:g.77767464C>T	GRCh37
NC_000014.7:g.76837217C>T	NCBI36
NG_008897.1:g.24762G>A , LRG_844:g.24762G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_013382.7:c.785G>A MANE Select	NP_037514.2:p.Trp262Ter
ENST00000261534.9:c.785G>A MANE Select	ENSP00000261534.4:p.Trp262Ter
NM_013382.5:c.785G>A , LRG_844t1:c.785G>A	NP_037514.2:p.Trp262Ter
NM_013382.6:c.785G>A	NP_037514.2:p.Trp262Ter
ENST00000261534.8:c.785G>A	ENSP00000261534.4:p.Trp262Ter
ENST00000452340.7:n.808G>A
ENST00000553863.5:n.449G>A
ENST00000553863.6:c.238G>A	ENSP00000508202.1:n.238G>A
ENST00000554767.5:n.43G>A
ENST00000555675.5:n.501G>A
ENST00000556326.5:c.*451G>A	ENSP00000450630.1:n.*451G>A
ENST00000556394.2:c.358-1560G>A	ENSP00000451967.2:n.358-1560G>A
ENST00000557289.1:c.56-1560G>A	ENSP00000451115.1:n.56-1560G>A
ENST00000557289.2:c.129G>A
ENST00000682247.1:c.785G>A	ENSP00000507213.1:p.Trp262Ter
ENST00000682382.1:c.496-2350G>A
ENST00000682395.1:n.514G>A
ENST00000682459.1:n.449G>A
ENST00000682467.1:c.785G>A	ENSP00000508062.1:p.Trp262Ter
ENST00000682795.1:c.785G>A	ENSP00000507574.1:p.Trp262Ter
ENST00000682895.1:n.501G>A
ENST00000682955.1:n.212-2350G>A
ENST00000683167.1:c.129G>A
ENST00000683188.1:c.343-1560G>A
ENST00000683300.1:c.109+3571G>A	ENSP00000507630.1:n.109+3571G>A
ENST00000683328.1:c.109+3571G>A	ENSP00000508096.1:n.109+3571G>A
ENST00000683380.1:n.449G>A
ENST00000683398.1:c.129G>A
ENST00000683551.1:c.109+1714G>A
ENST00000683828.1:c.526-1560G>A
ENST00000684259.1:n.636G>A
ENST00000684549.1:n.368-1560G>A
ENST00000684554.1:c.129G>A
XM_011536675.1:c.785G>A	XP_011534977.1:p.Trp262Ter
XM_011536675.2:c.785G>A	XP_011534977.1:p.Trp262Ter
XM_011536676.1:c.452G>A	XP_011534978.1:p.Trp151Ter
XM_011536676.2:c.452G>A	XP_011534978.1:p.Trp151Ter
XM_011536677.1:c.547+3571G>A	XP_011534979.1:n.547+3571G>A
XM_011536677.3:c.547+3571G>A	XP_011534979.1:n.547+3571G>A
XM_011536678.1:c.785G>A	XP_011534980.1:p.Trp262Ter
XM_011536679.1:c.-90-1560G>A	XP_011534981.1:n.-90-1560G>A
XM_011536680.1:c.785G>A	XP_011534982.1:p.Trp262Ter
XR_001750279.1:n.985G>A
XR_001750282.1:n.989G>A
XR_943416.1:n.988G>A
XR_943416.3:n.986G>A