Canonical Allele Identifier: CA2148328881

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77306350A= , CM000676.2:g.77306350A=	GRCh38
NC_000014.8:g.77772693A= , CM000676.1:g.77772693A=	GRCh37
NC_000014.7:g.76842446A=	NCBI36
NG_008897.1:g.19533T= , LRG_844:g.19533T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555675.6:n.154T=
ENST00000556394.2:c.249-1550T=	ENSP00000451967.2:n.249-1550T=
ENST00000556880.6:n.358T=
ENST00000682247.1:c.425T=	ENSP00000507213.1:p.Met142=
ENST00000682382.1:c.373T=
ENST00000682395.1:n.154T=
ENST00000682459.1:n.102+52T=
ENST00000682467.1:c.425T=	ENSP00000508062.1:p.Met142=
ENST00000682795.1:c.425T=	ENSP00000507574.1:p.Met142=
ENST00000682895.1:n.141T=
ENST00000682955.1:n.102+52T=
ENST00000683188.1:c.220T=
ENST00000683380.1:n.102+52T=
ENST00000683828.1:c.294T=
ENST00000684066.1:n.120T=
ENST00000684102.1:n.171T=
ENST00000684259.1:n.276T=
ENST00000684479.1:n.92T=
ENST00000684549.1:n.154T=
ENST00000684600.1:c.239T=
ENST00000684670.1:n.92T=
ENST00000684746.1:n.122T=
ENST00000261534.9:c.425T= MANE Select	ENSP00000261534.4:p.Met142=
ENST00000261534.8:c.425T=	ENSP00000261534.4:p.Met142=
ENST00000452340.7:n.448T=
ENST00000553863.5:n.102+52T=
ENST00000554948.1:c.152T=	ENSP00000452060.1:p.Met51=
ENST00000555675.5:n.141T=
ENST00000555788.5:n.259T=
ENST00000556326.5:c.*91T=	ENSP00000450630.1:n.*91T=
ENST00000556880.5:n.358T=
ENST00000557525.1:n.515T=
NM_013382.5:c.425T= , LRG_844t1:c.425T=	NP_037514.2:p.Met142=
XM_011536675.1:c.425T=	XP_011534977.1:p.Met142=
XM_011536676.1:c.92T=	XP_011534978.1:p.Met31=
XM_011536677.1:c.425T=	XP_011534979.1:p.Met142=
XM_011536678.1:c.425T=	XP_011534980.1:p.Met142=
XM_011536680.1:c.425T=	XP_011534982.1:p.Met142=
XR_943416.1:n.628T=
XM_011536675.2:c.425T=	XP_011534977.1:p.Met142=
XM_011536676.2:c.92T=	XP_011534978.1:p.Met31=
XM_011536677.3:c.425T=	XP_011534979.1:p.Met142=
XR_001750279.1:n.625T=
XR_001750282.1:n.629T=
XR_943416.3:n.626T=
NM_013382.6:c.425T=	NP_037514.2:p.Met142=
NM_013382.7:c.425T= MANE Select	NP_037514.2:p.Met142=