Canonical Allele Identifier: CA2148330073

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286757G= , CM000676.2:g.77286757G=	GRCh38
NC_000014.8:g.77753100G= , CM000676.1:g.77753100G=	GRCh37
NC_000014.7:g.76822853G=	NCBI36
NG_008897.1:g.39126C= , LRG_844:g.39126C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.860C=	ENSP00000451967.2:p.Thr287=
ENST00000682247.1:c.1319C=	ENSP00000507213.1:p.Thr440=
ENST00000682382.1:c.891C=
ENST00000682395.1:n.1497C=
ENST00000682459.1:n.1022C=
ENST00000682467.1:c.1319C=	ENSP00000508062.1:p.Thr440=
ENST00000682706.1:n.96C=
ENST00000682795.1:c.1319C=	ENSP00000507574.1:p.Thr440=
ENST00000682895.1:n.1035C=
ENST00000682955.1:n.607C=
ENST00000683188.1:c.1294C=
ENST00000683328.1:c.312C=	ENSP00000508096.1:n.312C=
ENST00000683380.1:n.983C=
ENST00000683828.1:c.1028C=
ENST00000684259.1:n.1170C=
ENST00000684444.1:c.66C=
ENST00000684549.1:n.870C=
ENST00000261534.9:c.1319C= MANE Select	ENSP00000261534.4:p.Thr440=
ENST00000261534.8:c.1319C=	ENSP00000261534.4:p.Thr440=
ENST00000452340.7:n.1342C=
ENST00000553880.5:n.190C=
ENST00000554767.5:n.2105C=
ENST00000554884.5:n.311C=
ENST00000556404.1:n.453C=
ENST00000556851.1:n.355C=
ENST00000557675.5:n.409C=
NM_013382.5:c.1319C= , LRG_844t1:c.1319C=	NP_037514.2:p.Thr440=
XM_011536675.1:c.1319C=	XP_011534977.1:p.Thr440=
XM_011536676.1:c.986C=	XP_011534978.1:p.Thr329=
XM_011536677.1:c.860C=	XP_011534979.1:p.Thr287=
XM_011536678.1:c.1319C=	XP_011534980.1:p.Thr440=
XM_011536679.1:c.413C=	XP_011534981.1:p.Thr138=
XR_943416.1:n.1522C=
XM_011536675.2:c.1319C=	XP_011534977.1:p.Thr440=
XM_011536676.2:c.986C=	XP_011534978.1:p.Thr329=
XM_011536677.3:c.860C=	XP_011534979.1:p.Thr287=
XR_001750279.1:n.1519C=
XR_001750282.1:n.1972C=
XR_943416.3:n.1520C=
NM_013382.6:c.1319C=	NP_037514.2:p.Thr440=
NM_013382.7:c.1319C= MANE Select	NP_037514.2:p.Thr440=