Canonical Allele Identifier: CA390512685

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77277453C>G , CM000676.2:g.77277453C>G	GRCh38
NC_000014.8:g.77743796C>G , CM000676.1:g.77743796C>G	GRCh37
NC_000014.7:g.76813549C>G	NCBI36
NG_008897.1:g.48430G>C , LRG_844:g.48430G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_013382.7:c.2176G>C MANE Select	NP_037514.2:p.Gly726Arg
ENST00000261534.9:c.2176G>C MANE Select	ENSP00000261534.4:p.Gly726Arg
NM_013382.5:c.2176G>C , LRG_844t1:c.2176G>C	NP_037514.2:p.Gly726Arg
NM_013382.6:c.2176G>C	NP_037514.2:p.Gly726Arg
ENST00000261534.8:c.2176G>C	ENSP00000261534.4:p.Gly726Arg
ENST00000452340.7:n.3152G>C
ENST00000554767.5:n.2962G>C
ENST00000555134.2:n.1101G>C
ENST00000555710.1:c.537G>C	ENSP00000451730.1:n.537G>C
ENST00000556394.1:c.231G>C
ENST00000556394.2:c.1717G>C	ENSP00000451967.2:p.Gly573Arg
ENST00000602717.5:c.363-175G>C	ENSP00000487704.1:n.363-175G>C
ENST00000682247.1:c.2165G>C	ENSP00000507213.1:p.Arg722Pro
ENST00000682395.1:n.2640G>C
ENST00000682459.1:n.1879G>C
ENST00000682467.1:c.2035G>C	ENSP00000508062.1:p.Gly679Arg
ENST00000682795.1:c.2323G>C	ENSP00000507574.1:p.Gly775Arg
ENST00000682895.1:n.1892G>C
ENST00000682897.1:c.29G>C
ENST00000682955.1:n.1750G>C
ENST00000683188.1:c.2437G>C
ENST00000683380.1:n.1840G>C
ENST00000683784.1:c.29G>C
ENST00000684259.1:n.3943G>C
ENST00000684538.1:n.1555G>C
ENST00000684549.1:n.1727G>C
XM_011536675.1:c.2365G>C	XP_011534977.1:p.Gly789Arg
XM_011536675.2:c.2365G>C	XP_011534977.1:p.Gly789Arg
XM_011536676.1:c.2032G>C	XP_011534978.1:p.Gly678Arg
XM_011536676.2:c.2032G>C	XP_011534978.1:p.Gly678Arg
XM_011536677.1:c.1906G>C	XP_011534979.1:p.Gly636Arg
XM_011536677.3:c.1906G>C	XP_011534979.1:p.Gly636Arg
XM_011536679.1:c.1459G>C	XP_011534981.1:p.Gly487Arg
XR_001750279.1:n.2462G>C
XR_001750282.1:n.3115G>C
XR_943416.1:n.2429G>C
XR_943416.3:n.2427G>C