Canonical Allele Identifier: CA487325731

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77772680T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77306337T>C , CM000676.2:g.77306337T>C	GRCh38
NC_000014.8:g.77772680T>C , CM000676.1:g.77772680T>C	GRCh37
NC_000014.7:g.76842433T>C	NCBI36
NG_008897.1:g.19546A>G , LRG_844:g.19546A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555675.6:n.167A>G
ENST00000556394.2:c.249-1537A>G	ENSP00000451967.2:n.249-1537A>G
ENST00000556880.6:n.371A>G
ENST00000682247.1:c.438A>G	ENSP00000507213.1:p.Gly146=
ENST00000682382.1:c.386A>G
ENST00000682395.1:n.167A>G
ENST00000682459.1:n.102+65A>G
ENST00000682467.1:c.438A>G	ENSP00000508062.1:p.Gly146=
ENST00000682795.1:c.438A>G	ENSP00000507574.1:p.Gly146=
ENST00000682895.1:n.154A>G
ENST00000682955.1:n.102+65A>G
ENST00000683188.1:c.233A>G
ENST00000683380.1:n.102+65A>G
ENST00000683828.1:c.307A>G
ENST00000684066.1:n.133A>G
ENST00000684102.1:n.184A>G
ENST00000684259.1:n.289A>G
ENST00000684479.1:n.105A>G
ENST00000684549.1:n.167A>G
ENST00000684600.1:c.252A>G
ENST00000684670.1:n.105A>G
ENST00000684746.1:n.135A>G
ENST00000261534.9:c.438A>G MANE Select	ENSP00000261534.4:p.Gly146=
ENST00000261534.8:c.438A>G	ENSP00000261534.4:p.Gly146=
ENST00000452340.7:n.461A>G
ENST00000553863.5:n.102+65A>G
ENST00000554948.1:c.165A>G	ENSP00000452060.1:p.Gly55=
ENST00000555675.5:n.154A>G
ENST00000555788.5:n.272A>G
ENST00000556326.5:c.*104A>G	ENSP00000450630.1:n.*104A>G
ENST00000556880.5:n.371A>G
ENST00000557525.1:n.528A>G
NM_013382.5:c.438A>G , LRG_844t1:c.438A>G	NP_037514.2:p.Gly146=
XM_011536675.1:c.438A>G	XP_011534977.1:p.Gly146=
XM_011536676.1:c.105A>G	XP_011534978.1:p.Gly35=
XM_011536677.1:c.438A>G	XP_011534979.1:p.Gly146=
XM_011536678.1:c.438A>G	XP_011534980.1:p.Gly146=
XM_011536680.1:c.438A>G	XP_011534982.1:p.Gly146=
XR_943416.1:n.641A>G
XM_011536675.2:c.438A>G	XP_011534977.1:p.Gly146=
XM_011536676.2:c.105A>G	XP_011534978.1:p.Gly35=
XM_011536677.3:c.438A>G	XP_011534979.1:p.Gly146=
XR_001750279.1:n.638A>G
XR_001750282.1:n.642A>G
XR_943416.3:n.639A>G
NM_013382.6:c.438A>G	NP_037514.2:p.Gly146=
NM_013382.7:c.438A>G MANE Select	NP_037514.2:p.Gly146=