Canonical Allele Identifier: CA7286274

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77320564G>C , CM000676.2:g.77320564G>C	GRCh38
NC_000014.8:g.77786907G>C , CM000676.1:g.77786907G>C	GRCh37
NC_000014.7:g.76856660G>C	NCBI36
NG_008897.1:g.5319C>G , LRG_844:g.5319C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.118C>G	ENSP00000451967.2:p.Arg40Gly
ENST00000682247.1:c.118C>G	ENSP00000507213.1:p.Arg40Gly
ENST00000682382.1:c.66C>G
ENST00000682467.1:c.118C>G	ENSP00000508062.1:p.Arg40Gly
ENST00000682795.1:c.118C>G	ENSP00000507574.1:p.Arg40Gly
ENST00000684344.1:c.118C>G	ENSP00000507432.1:p.Arg40Gly
ENST00000684534.1:n.141C>G
ENST00000261534.9:c.118C>G MANE Select	ENSP00000261534.4:p.Arg40Gly
ENST00000261534.8:c.118C>G	ENSP00000261534.4:p.Arg40Gly
ENST00000452340.7:n.141C>G
ENST00000556326.5:c.118C>G	ENSP00000450630.1:p.Arg40Gly
NM_013382.5:c.118C>G , LRG_844t1:c.118C>G	NP_037514.2:p.Arg40Gly
XM_011536675.1:c.118C>G	XP_011534977.1:p.Arg40Gly
XM_011536676.1:c.-131C>G	XP_011534978.1:n.-131C>G
XM_011536677.1:c.118C>G	XP_011534979.1:p.Arg40Gly
XM_011536678.1:c.118C>G	XP_011534980.1:p.Arg40Gly
XM_011536680.1:c.118C>G	XP_011534982.1:p.Arg40Gly
XR_943416.1:n.321C>G
XM_011536675.2:c.118C>G	XP_011534977.1:p.Arg40Gly
XM_011536676.2:c.-131C>G	XP_011534978.1:n.-131C>G
XM_011536677.3:c.118C>G	XP_011534979.1:p.Arg40Gly
XR_001750279.1:n.318C>G
XR_001750282.1:n.322C>G
XR_943416.3:n.319C>G
NM_013382.6:c.118C>G	NP_037514.2:p.Arg40Gly
NM_013382.7:c.118C>G MANE Select	NP_037514.2:p.Arg40Gly