Canonical Allele Identifier: CA7286240

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77311995T>C , CM000676.2:g.77311995T>C	GRCh38
NC_000014.8:g.77778338T>C , CM000676.1:g.77778338T>C	GRCh37
NC_000014.7:g.76848091T>C	NCBI36
NG_008897.1:g.13888A>G , LRG_844:g.13888A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_013382.7:c.287A>G MANE Select	NP_037514.2:p.Tyr96Cys
ENST00000261534.9:c.287A>G MANE Select	ENSP00000261534.4:p.Tyr96Cys
NM_013382.5:c.287A>G , LRG_844t1:c.287A>G	NP_037514.2:p.Tyr96Cys
NM_013382.6:c.287A>G	NP_037514.2:p.Tyr96Cys
ENST00000261534.8:c.287A>G	ENSP00000261534.4:p.Tyr96Cys
ENST00000452340.7:n.310A>G
ENST00000554948.1:c.14A>G	ENSP00000452060.1:p.Tyr5Cys
ENST00000555788.5:n.121A>G
ENST00000556326.5:c.249-5554A>G	ENSP00000450630.1:n.249-5554A>G
ENST00000556394.2:c.249-7195A>G	ENSP00000451967.2:n.249-7195A>G
ENST00000557525.1:n.377A>G
ENST00000682247.1:c.287A>G	ENSP00000507213.1:p.Tyr96Cys
ENST00000682382.1:c.235A>G
ENST00000682467.1:c.287A>G	ENSP00000508062.1:p.Tyr96Cys
ENST00000682795.1:c.287A>G	ENSP00000507574.1:p.Tyr96Cys
ENST00000683188.1:c.82A>G
ENST00000683828.1:c.156A>G
ENST00000684102.1:n.33A>G
ENST00000684259.1:n.138A>G
ENST00000684344.1:c.*107A>G	ENSP00000507432.1:n.*107A>G
ENST00000684600.1:c.39A>G
XM_011536675.1:c.287A>G	XP_011534977.1:p.Tyr96Cys
XM_011536675.2:c.287A>G	XP_011534977.1:p.Tyr96Cys
XM_011536676.1:c.1-5554A>G	XP_011534978.1:n.1-5554A>G
XM_011536676.2:c.1-5554A>G	XP_011534978.1:n.1-5554A>G
XM_011536677.1:c.287A>G	XP_011534979.1:p.Tyr96Cys
XM_011536677.3:c.287A>G	XP_011534979.1:p.Tyr96Cys
XM_011536678.1:c.287A>G	XP_011534980.1:p.Tyr96Cys
XM_011536680.1:c.287A>G	XP_011534982.1:p.Tyr96Cys
XR_001750279.1:n.487A>G
XR_001750282.1:n.491A>G
XR_943416.1:n.490A>G
XR_943416.3:n.488A>G