Canonical Allele Identifier: CA223086

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77311962G>A , CM000676.2:g.77311962G>A	GRCh38
NC_000014.8:g.77778305G>A , CM000676.1:g.77778305G>A	GRCh37
NC_000014.7:g.76848058G>A	NCBI36
NG_008897.1:g.13921C>T , LRG_844:g.13921C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_013382.7:c.320C>T MANE Select	NP_037514.2:p.Pro107Leu
ENST00000261534.9:c.320C>T MANE Select	ENSP00000261534.4:p.Pro107Leu
NM_013382.5:c.320C>T , LRG_844t1:c.320C>T	NP_037514.2:p.Pro107Leu
NM_013382.6:c.320C>T	NP_037514.2:p.Pro107Leu
ENST00000261534.8:c.320C>T	ENSP00000261534.4:p.Pro107Leu
ENST00000452340.7:n.343C>T
ENST00000554948.1:c.47C>T	ENSP00000452060.1:p.Pro16Leu
ENST00000555788.5:n.154C>T
ENST00000556326.5:c.249-5521C>T	ENSP00000450630.1:n.249-5521C>T
ENST00000556394.2:c.249-7162C>T	ENSP00000451967.2:n.249-7162C>T
ENST00000557525.1:n.410C>T
ENST00000682247.1:c.320C>T	ENSP00000507213.1:p.Pro107Leu
ENST00000682382.1:c.268C>T
ENST00000682467.1:c.320C>T	ENSP00000508062.1:p.Pro107Leu
ENST00000682795.1:c.320C>T	ENSP00000507574.1:p.Pro107Leu
ENST00000683188.1:c.115C>T
ENST00000683828.1:c.189C>T
ENST00000684102.1:n.66C>T
ENST00000684259.1:n.171C>T
ENST00000684344.1:c.*140C>T	ENSP00000507432.1:n.*140C>T
ENST00000684600.1:c.72C>T
XM_011536675.1:c.320C>T	XP_011534977.1:p.Pro107Leu
XM_011536675.2:c.320C>T	XP_011534977.1:p.Pro107Leu
XM_011536676.1:c.1-5521C>T	XP_011534978.1:n.1-5521C>T
XM_011536676.2:c.1-5521C>T	XP_011534978.1:n.1-5521C>T
XM_011536677.1:c.320C>T	XP_011534979.1:p.Pro107Leu
XM_011536677.3:c.320C>T	XP_011534979.1:p.Pro107Leu
XM_011536678.1:c.320C>T	XP_011534980.1:p.Pro107Leu
XM_011536680.1:c.320C>T	XP_011534982.1:p.Pro107Leu
XR_001750279.1:n.520C>T
XR_001750282.1:n.524C>T
XR_943416.1:n.523C>T
XR_943416.3:n.521C>T