Canonical Allele Identifier: CA487324586

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77291369A>G , CM000676.2:g.77291369A>G	GRCh38
NC_000014.8:g.77757712A>G , CM000676.1:g.77757712A>G	GRCh37
NC_000014.7:g.76827465A>G	NCBI36
NG_008897.1:g.34514T>C , LRG_844:g.34514T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_013382.7:c.1128T>C MANE Select	NP_037514.2:p.Tyr376=
ENST00000261534.9:c.1128T>C MANE Select	ENSP00000261534.4:p.Tyr376=
NM_013382.5:c.1128T>C , LRG_844t1:c.1128T>C	NP_037514.2:p.Tyr376=
NM_013382.6:c.1128T>C	NP_037514.2:p.Tyr376=
ENST00000261534.8:c.1128T>C	ENSP00000261534.4:p.Tyr376=
ENST00000452340.7:n.1151T>C
ENST00000554767.5:n.1914T>C
ENST00000556394.2:c.669T>C	ENSP00000451967.2:p.Tyr223=
ENST00000556851.1:n.125T>C
ENST00000557675.5:n.218T>C
ENST00000682247.1:c.1128T>C	ENSP00000507213.1:p.Tyr376=
ENST00000682382.1:c.700T>C
ENST00000682395.1:n.857T>C
ENST00000682459.1:n.792T>C
ENST00000682467.1:c.1128T>C	ENSP00000508062.1:p.Tyr376=
ENST00000682795.1:c.1128T>C	ENSP00000507574.1:p.Tyr376=
ENST00000682895.1:n.844T>C
ENST00000682955.1:n.416T>C
ENST00000683188.1:c.654T>C
ENST00000683285.1:c.273T>C
ENST00000683328.1:c.121T>C	ENSP00000508096.1:p.Phe41Leu
ENST00000683380.1:n.792T>C
ENST00000683828.1:c.837T>C
ENST00000684259.1:n.979T>C
ENST00000684528.1:c.643T>C
ENST00000684549.1:n.679T>C
XM_011536675.1:c.1128T>C	XP_011534977.1:p.Tyr376=
XM_011536675.2:c.1128T>C	XP_011534977.1:p.Tyr376=
XM_011536676.1:c.795T>C	XP_011534978.1:p.Tyr265=
XM_011536676.2:c.795T>C	XP_011534978.1:p.Tyr265=
XM_011536677.1:c.669T>C	XP_011534979.1:p.Tyr223=
XM_011536677.3:c.669T>C	XP_011534979.1:p.Tyr223=
XM_011536678.1:c.1128T>C	XP_011534980.1:p.Tyr376=
XM_011536679.1:c.222T>C	XP_011534981.1:p.Tyr74=
XM_011536680.1:c.1128T>C	XP_011534982.1:p.Tyr376=
XR_001750279.1:n.1328T>C
XR_001750282.1:n.1332T>C
XR_943416.1:n.1331T>C
XR_943416.3:n.1329T>C