Canonical Allele Identifier: CA390521112

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77772769C>T (hg19) ; chr14:g.77306426C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77306426C>T , CM000676.2:g.77306426C>T	GRCh38
NC_000014.8:g.77772769C>T , CM000676.1:g.77772769C>T	GRCh37
NC_000014.7:g.76842522C>T	NCBI36
NG_008897.1:g.19457G>A , LRG_844:g.19457G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555675.6:n.78G>A
ENST00000556394.2:c.249-1626G>A	ENSP00000451967.2:n.249-1626G>A
ENST00000556880.6:n.282G>A
ENST00000682247.1:c.349G>A	ENSP00000507213.1:p.Ala117Thr
ENST00000682382.1:c.297G>A
ENST00000682395.1:n.78G>A
ENST00000682459.1:n.78G>A
ENST00000682467.1:c.349G>A	ENSP00000508062.1:p.Ala117Thr
ENST00000682795.1:c.349G>A	ENSP00000507574.1:p.Ala117Thr
ENST00000682895.1:n.65G>A
ENST00000682955.1:n.78G>A
ENST00000683188.1:c.144G>A
ENST00000683380.1:n.78G>A
ENST00000683828.1:c.218G>A
ENST00000684066.1:n.44G>A
ENST00000684102.1:n.95G>A
ENST00000684259.1:n.200G>A
ENST00000684479.1:n.16G>A
ENST00000684549.1:n.78G>A
ENST00000684600.1:c.163G>A
ENST00000684670.1:n.16G>A
ENST00000684746.1:n.46G>A
ENST00000261534.9:c.349G>A MANE Select	ENSP00000261534.4:p.Ala117Thr
ENST00000261534.8:c.349G>A	ENSP00000261534.4:p.Ala117Thr
ENST00000452340.7:n.372G>A
ENST00000553863.5:n.78G>A
ENST00000554948.1:c.76G>A	ENSP00000452060.1:p.Ala26Thr
ENST00000555675.5:n.65G>A
ENST00000555788.5:n.183G>A
ENST00000556326.5:c.*15G>A	ENSP00000450630.1:n.*15G>A
ENST00000556880.5:n.282G>A
ENST00000557525.1:n.439G>A
NM_013382.5:c.349G>A , LRG_844t1:c.349G>A	NP_037514.2:p.Ala117Thr
XM_011536675.1:c.349G>A	XP_011534977.1:p.Ala117Thr
XM_011536676.1:c.16G>A	XP_011534978.1:p.Ala6Thr
XM_011536677.1:c.349G>A	XP_011534979.1:p.Ala117Thr
XM_011536678.1:c.349G>A	XP_011534980.1:p.Ala117Thr
XM_011536680.1:c.349G>A	XP_011534982.1:p.Ala117Thr
XR_943416.1:n.552G>A
XM_011536675.2:c.349G>A	XP_011534977.1:p.Ala117Thr
XM_011536676.2:c.16G>A	XP_011534978.1:p.Ala6Thr
XM_011536677.3:c.349G>A	XP_011534979.1:p.Ala117Thr
XR_001750279.1:n.549G>A
XR_001750282.1:n.553G>A
XR_943416.3:n.550G>A
NM_013382.6:c.349G>A	NP_037514.2:p.Ala117Thr
NM_013382.7:c.349G>A MANE Select	NP_037514.2:p.Ala117Thr