Canonical Allele Identifier: CA390520993

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77772715T>G (hg19) ; chr14:g.77306372T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77306372T>G , CM000676.2:g.77306372T>G	GRCh38
NC_000014.8:g.77772715T>G , CM000676.1:g.77772715T>G	GRCh37
NC_000014.7:g.76842468T>G	NCBI36
NG_008897.1:g.19511A>C , LRG_844:g.19511A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555675.6:n.132A>C
ENST00000556394.2:c.249-1572A>C	ENSP00000451967.2:n.249-1572A>C
ENST00000556880.6:n.336A>C
ENST00000682247.1:c.403A>C	ENSP00000507213.1:p.Lys135Gln
ENST00000682382.1:c.351A>C
ENST00000682395.1:n.132A>C
ENST00000682459.1:n.102+30A>C
ENST00000682467.1:c.403A>C	ENSP00000508062.1:p.Lys135Gln
ENST00000682795.1:c.403A>C	ENSP00000507574.1:p.Lys135Gln
ENST00000682895.1:n.119A>C
ENST00000682955.1:n.102+30A>C
ENST00000683188.1:c.198A>C
ENST00000683380.1:n.102+30A>C
ENST00000683828.1:c.272A>C
ENST00000684066.1:n.98A>C
ENST00000684102.1:n.149A>C
ENST00000684259.1:n.254A>C
ENST00000684479.1:n.70A>C
ENST00000684549.1:n.132A>C
ENST00000684600.1:c.217A>C
ENST00000684670.1:n.70A>C
ENST00000684746.1:n.100A>C
ENST00000261534.9:c.403A>C MANE Select	ENSP00000261534.4:p.Lys135Gln
ENST00000261534.8:c.403A>C	ENSP00000261534.4:p.Lys135Gln
ENST00000452340.7:n.426A>C
ENST00000553863.5:n.102+30A>C
ENST00000554948.1:c.130A>C	ENSP00000452060.1:p.Lys44Gln
ENST00000555675.5:n.119A>C
ENST00000555788.5:n.237A>C
ENST00000556326.5:c.*69A>C	ENSP00000450630.1:n.*69A>C
ENST00000556880.5:n.336A>C
ENST00000557525.1:n.493A>C
NM_013382.5:c.403A>C , LRG_844t1:c.403A>C	NP_037514.2:p.Lys135Gln
XM_011536675.1:c.403A>C	XP_011534977.1:p.Lys135Gln
XM_011536676.1:c.70A>C	XP_011534978.1:p.Lys24Gln
XM_011536677.1:c.403A>C	XP_011534979.1:p.Lys135Gln
XM_011536678.1:c.403A>C	XP_011534980.1:p.Lys135Gln
XM_011536680.1:c.403A>C	XP_011534982.1:p.Lys135Gln
XR_943416.1:n.606A>C
XM_011536675.2:c.403A>C	XP_011534977.1:p.Lys135Gln
XM_011536676.2:c.70A>C	XP_011534978.1:p.Lys24Gln
XM_011536677.3:c.403A>C	XP_011534979.1:p.Lys135Gln
XR_001750279.1:n.603A>C
XR_001750282.1:n.607A>C
XR_943416.3:n.604A>C
NM_013382.6:c.403A>C	NP_037514.2:p.Lys135Gln
NM_013382.7:c.403A>C MANE Select	NP_037514.2:p.Lys135Gln