Canonical Allele Identifier: CA2148327578

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278667T= , CM000676.2:g.77278667T=	GRCh38
NC_000014.8:g.77745010T= , CM000676.1:g.77745010T=	GRCh37
NC_000014.7:g.76814763T=	NCBI36
NG_008897.1:g.47216A= , LRG_844:g.47216A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.957+62A=
ENST00000556394.2:c.1573+62A=	ENSP00000451967.2:n.1573+62A=
ENST00000682247.1:c.2021+62A=	ENSP00000507213.1:n.2021+62A=
ENST00000682395.1:n.2496+62A=
ENST00000682459.1:n.1735+62A=
ENST00000682467.1:c.1892-159A=	ENSP00000508062.1:n.1892-159A=
ENST00000682795.1:c.2179+62A=	ENSP00000507574.1:n.2179+62A=
ENST00000682895.1:n.1748+62A=
ENST00000682955.1:n.1606+62A=
ENST00000683188.1:c.2293+62A=
ENST00000683380.1:n.1696+62A=
ENST00000683907.1:c.297+62A=	ENSP00000507754.1:n.297+62A=
ENST00000684259.1:n.3799+62A=
ENST00000684538.1:n.1411+62A=
ENST00000684549.1:n.1583+62A=
ENST00000261534.9:c.2032+62A= MANE Select	ENSP00000261534.4:n.2032+62A=
ENST00000261534.8:c.2032+62A=	ENSP00000261534.4:n.2032+62A=
ENST00000452340.7:n.3008+62A=
ENST00000554767.5:n.2818+62A=
ENST00000555710.1:c.393+62A=	ENSP00000451730.1:n.393+62A=
ENST00000556394.1:c.88-159A=
ENST00000556446.1:n.333+62A=
ENST00000602717.5:c.247+62A=	ENSP00000487704.1:n.247+62A=
NM_013382.5:c.2032+62A= , LRG_844t1:c.2032+62A=	NP_037514.2:n.2032+62A=
XM_011536675.1:c.2221+62A=	XP_011534977.1:n.2221+62A=
XM_011536676.1:c.1888+62A=	XP_011534978.1:n.1888+62A=
XM_011536677.1:c.1762+62A=	XP_011534979.1:n.1762+62A=
XM_011536679.1:c.1315+62A=	XP_011534981.1:n.1315+62A=
XR_943416.1:n.2285+62A=
XM_011536675.2:c.2221+62A=	XP_011534977.1:n.2221+62A=
XM_011536676.2:c.1888+62A=	XP_011534978.1:n.1888+62A=
XM_011536677.3:c.1762+62A=	XP_011534979.1:n.1762+62A=
XR_001750279.1:n.2318+62A=
XR_001750282.1:n.2971+62A=
XR_943416.3:n.2283+62A=
NM_013382.6:c.2032+62A=	NP_037514.2:n.2032+62A=
NM_013382.7:c.2032+62A= MANE Select	NP_037514.2:n.2032+62A=