Canonical Allele Identifier: CA390520960

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77772702T>G (hg19) ; chr14:g.77306359T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77306359T>G , CM000676.2:g.77306359T>G	GRCh38
NC_000014.8:g.77772702T>G , CM000676.1:g.77772702T>G	GRCh37
NC_000014.7:g.76842455T>G	NCBI36
NG_008897.1:g.19524A>C , LRG_844:g.19524A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555675.6:n.145A>C
ENST00000556394.2:c.249-1559A>C	ENSP00000451967.2:n.249-1559A>C
ENST00000556880.6:n.349A>C
ENST00000682247.1:c.416A>C	ENSP00000507213.1:p.His139Pro
ENST00000682382.1:c.364A>C
ENST00000682395.1:n.145A>C
ENST00000682459.1:n.102+43A>C
ENST00000682467.1:c.416A>C	ENSP00000508062.1:p.His139Pro
ENST00000682795.1:c.416A>C	ENSP00000507574.1:p.His139Pro
ENST00000682895.1:n.132A>C
ENST00000682955.1:n.102+43A>C
ENST00000683188.1:c.211A>C
ENST00000683380.1:n.102+43A>C
ENST00000683828.1:c.285A>C
ENST00000684066.1:n.111A>C
ENST00000684102.1:n.162A>C
ENST00000684259.1:n.267A>C
ENST00000684479.1:n.83A>C
ENST00000684549.1:n.145A>C
ENST00000684600.1:c.230A>C
ENST00000684670.1:n.83A>C
ENST00000684746.1:n.113A>C
ENST00000261534.9:c.416A>C MANE Select	ENSP00000261534.4:p.His139Pro
ENST00000261534.8:c.416A>C	ENSP00000261534.4:p.His139Pro
ENST00000452340.7:n.439A>C
ENST00000553863.5:n.102+43A>C
ENST00000554948.1:c.143A>C	ENSP00000452060.1:p.His48Pro
ENST00000555675.5:n.132A>C
ENST00000555788.5:n.250A>C
ENST00000556326.5:c.*82A>C	ENSP00000450630.1:n.*82A>C
ENST00000556880.5:n.349A>C
ENST00000557525.1:n.506A>C
NM_013382.5:c.416A>C , LRG_844t1:c.416A>C	NP_037514.2:p.His139Pro
XM_011536675.1:c.416A>C	XP_011534977.1:p.His139Pro
XM_011536676.1:c.83A>C	XP_011534978.1:p.His28Pro
XM_011536677.1:c.416A>C	XP_011534979.1:p.His139Pro
XM_011536678.1:c.416A>C	XP_011534980.1:p.His139Pro
XM_011536680.1:c.416A>C	XP_011534982.1:p.His139Pro
XR_943416.1:n.619A>C
XM_011536675.2:c.416A>C	XP_011534977.1:p.His139Pro
XM_011536676.2:c.83A>C	XP_011534978.1:p.His28Pro
XM_011536677.3:c.416A>C	XP_011534979.1:p.His139Pro
XR_001750279.1:n.616A>C
XR_001750282.1:n.620A>C
XR_943416.3:n.617A>C
NM_013382.6:c.416A>C	NP_037514.2:p.His139Pro
NM_013382.7:c.416A>C MANE Select	NP_037514.2:p.His139Pro