Canonical Allele Identifier: CA2148327612

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278736C= , CM000676.2:g.77278736C=	GRCh38
NC_000014.8:g.77745079C= , CM000676.1:g.77745079C=	GRCh37
NC_000014.7:g.76814832C=	NCBI36
NG_008897.1:g.47147G= , LRG_844:g.47147G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.950G=
ENST00000556394.2:c.1566G=	ENSP00000451967.2:p.Met522=
ENST00000682128.1:c.326G=	ENSP00000506976.1:n.326G=
ENST00000682247.1:c.2014G=	ENSP00000507213.1:p.Val672=
ENST00000682395.1:n.2489G=
ENST00000682459.1:n.1728G=
ENST00000682467.1:c.1892-228G=	ENSP00000508062.1:n.1892-228G=
ENST00000682615.1:n.379G=
ENST00000682795.1:c.2172G=	ENSP00000507574.1:p.Met724=
ENST00000682895.1:n.1741G=
ENST00000682955.1:n.1599G=
ENST00000683095.1:c.431G=	ENSP00000508040.1:n.431G=
ENST00000683188.1:c.2286G=
ENST00000683380.1:n.1689G=
ENST00000683907.1:c.290G=	ENSP00000507754.1:n.290G=
ENST00000684172.1:c.401G=	ENSP00000508391.1:n.401G=
ENST00000684259.1:n.3792G=
ENST00000684538.1:n.1404G=
ENST00000684549.1:n.1576G=
ENST00000261534.9:c.2025G= MANE Select	ENSP00000261534.4:p.Met675=
ENST00000261534.8:c.2025G=	ENSP00000261534.4:p.Met675=
ENST00000452340.7:n.3001G=
ENST00000554767.5:n.2811G=
ENST00000555710.1:c.386G=	ENSP00000451730.1:n.386G=
ENST00000556394.1:c.88-228G=
ENST00000556446.1:n.326G=
ENST00000602717.5:c.240G=	ENSP00000487704.1:p.Met80=
NM_013382.5:c.2025G= , LRG_844t1:c.2025G=	NP_037514.2:p.Met675=
XM_011536675.1:c.2214G=	XP_011534977.1:p.Met738=
XM_011536676.1:c.1881G=	XP_011534978.1:p.Met627=
XM_011536677.1:c.1755G=	XP_011534979.1:p.Met585=
XM_011536679.1:c.1308G=	XP_011534981.1:p.Met436=
XR_943416.1:n.2278G=
XM_011536675.2:c.2214G=	XP_011534977.1:p.Met738=
XM_011536676.2:c.1881G=	XP_011534978.1:p.Met627=
XM_011536677.3:c.1755G=	XP_011534979.1:p.Met585=
XR_001750279.1:n.2311G=
XR_001750282.1:n.2964G=
XR_943416.3:n.2276G=
NM_013382.6:c.2025G=	NP_037514.2:p.Met675=
NM_013382.7:c.2025G= MANE Select	NP_037514.2:p.Met675=