Canonical Allele Identifier: CA390520643

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77302938C>G , CM000676.2:g.77302938C>G	GRCh38
NC_000014.8:g.77769281C>G , CM000676.1:g.77769281C>G	GRCh37
NC_000014.7:g.76839034C>G	NCBI36
NG_008897.1:g.22945G>C , LRG_844:g.22945G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_013382.7:c.553G>C MANE Select	NP_037514.2:p.Gly185Arg
ENST00000261534.9:c.553G>C MANE Select	ENSP00000261534.4:p.Gly185Arg
NM_013382.5:c.553G>C , LRG_844t1:c.553G>C	NP_037514.2:p.Gly185Arg
NM_013382.6:c.553G>C	NP_037514.2:p.Gly185Arg
ENST00000261534.8:c.553G>C	ENSP00000261534.4:p.Gly185Arg
ENST00000452340.7:n.576G>C
ENST00000553863.5:n.217G>C
ENST00000553863.6:c.110-1689G>C	ENSP00000508202.1:n.110-1689G>C
ENST00000554948.1:c.280G>C	ENSP00000452060.1:p.Gly94Arg
ENST00000555675.5:n.269G>C
ENST00000555675.6:n.1818G>C
ENST00000556326.5:c.*219G>C	ENSP00000450630.1:n.*219G>C
ENST00000556394.2:c.357+1754G>C	ENSP00000451967.2:n.357+1754G>C
ENST00000556880.5:n.577G>C
ENST00000556880.6:n.577G>C
ENST00000557289.1:c.55+1754G>C	ENSP00000451115.1:n.55+1754G>C
ENST00000682247.1:c.553G>C	ENSP00000507213.1:p.Gly185Arg
ENST00000682377.1:c.133G>C	ENSP00000507494.1:p.Gly45Arg
ENST00000682382.1:c.495+1754G>C
ENST00000682395.1:n.282G>C
ENST00000682459.1:n.217G>C
ENST00000682467.1:c.553G>C	ENSP00000508062.1:p.Gly185Arg
ENST00000682795.1:c.553G>C	ENSP00000507574.1:p.Gly185Arg
ENST00000682895.1:n.269G>C
ENST00000682955.1:n.211+1754G>C
ENST00000683188.1:c.342+1754G>C
ENST00000683300.1:c.109+1754G>C	ENSP00000507630.1:n.109+1754G>C
ENST00000683328.1:c.109+1754G>C	ENSP00000508096.1:n.109+1754G>C
ENST00000683380.1:n.217G>C
ENST00000683551.1:c.6G>C
ENST00000683828.1:c.422G>C
ENST00000684102.1:n.1835G>C
ENST00000684259.1:n.404G>C
ENST00000684549.1:n.367+1754G>C
XM_011536675.1:c.553G>C	XP_011534977.1:p.Gly185Arg
XM_011536675.2:c.553G>C	XP_011534977.1:p.Gly185Arg
XM_011536676.1:c.220G>C	XP_011534978.1:p.Gly74Arg
XM_011536676.2:c.220G>C	XP_011534978.1:p.Gly74Arg
XM_011536677.1:c.547+1754G>C	XP_011534979.1:n.547+1754G>C
XM_011536677.3:c.547+1754G>C	XP_011534979.1:n.547+1754G>C
XM_011536678.1:c.553G>C	XP_011534980.1:p.Gly185Arg
XM_011536679.1:c.-91+1754G>C	XP_011534981.1:n.-91+1754G>C
XM_011536680.1:c.553G>C	XP_011534982.1:p.Gly185Arg
XR_001750279.1:n.753G>C
XR_001750282.1:n.757G>C
XR_943416.1:n.756G>C
XR_943416.3:n.754G>C