Canonical Allele Identifier: CA390502504

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77311948C>A , CM000676.2:g.77311948C>A	GRCh38
NC_000014.8:g.77778291C>A , CM000676.1:g.77778291C>A	GRCh37
NC_000014.7:g.76848044C>A	NCBI36
NG_008897.1:g.13935G>T , LRG_844:g.13935G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_013382.7:c.333+1G>T MANE Select	NP_037514.2:n.333+1G>T
ENST00000261534.9:c.333+1G>T MANE Select	ENSP00000261534.4:n.333+1G>T
NM_013382.5:c.333+1G>T , LRG_844t1:c.333+1G>T	NP_037514.2:n.333+1G>T
NM_013382.6:c.333+1G>T	NP_037514.2:n.333+1G>T
ENST00000261534.8:c.333+1G>T	ENSP00000261534.4:n.333+1G>T
ENST00000452340.7:n.356+1G>T
ENST00000554948.1:c.60+1G>T	ENSP00000452060.1:n.60+1G>T
ENST00000555788.5:n.167+1G>T
ENST00000556326.5:c.249-5507G>T	ENSP00000450630.1:n.249-5507G>T
ENST00000556394.2:c.249-7148G>T	ENSP00000451967.2:n.249-7148G>T
ENST00000557525.1:n.423+1G>T
ENST00000682247.1:c.333+1G>T	ENSP00000507213.1:n.333+1G>T
ENST00000682382.1:c.281+1G>T
ENST00000682467.1:c.333+1G>T	ENSP00000508062.1:n.333+1G>T
ENST00000682795.1:c.333+1G>T	ENSP00000507574.1:n.333+1G>T
ENST00000683188.1:c.128+1G>T
ENST00000683828.1:c.202+1G>T
ENST00000684102.1:n.79+1G>T
ENST00000684259.1:n.184+1G>T
ENST00000684600.1:c.85+1G>T
XM_011536675.1:c.333+1G>T	XP_011534977.1:n.333+1G>T
XM_011536675.2:c.333+1G>T	XP_011534977.1:n.333+1G>T
XM_011536676.1:c.1-5507G>T	XP_011534978.1:n.1-5507G>T
XM_011536676.2:c.1-5507G>T	XP_011534978.1:n.1-5507G>T
XM_011536677.1:c.333+1G>T	XP_011534979.1:n.333+1G>T
XM_011536677.3:c.333+1G>T	XP_011534979.1:n.333+1G>T
XM_011536678.1:c.333+1G>T	XP_011534980.1:n.333+1G>T
XM_011536680.1:c.333+1G>T	XP_011534982.1:n.333+1G>T
XR_001750279.1:n.533+1G>T
XR_001750282.1:n.537+1G>T
XR_943416.1:n.536+1G>T
XR_943416.3:n.534+1G>T