Canonical Allele Identifier: CA390521064

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77772746A>T (hg19) ; chr14:g.77306403A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77306403A>T , CM000676.2:g.77306403A>T	GRCh38
NC_000014.8:g.77772746A>T , CM000676.1:g.77772746A>T	GRCh37
NC_000014.7:g.76842499A>T	NCBI36
NG_008897.1:g.19480T>A , LRG_844:g.19480T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555675.6:n.101T>A
ENST00000556394.2:c.249-1603T>A	ENSP00000451967.2:n.249-1603T>A
ENST00000556880.6:n.305T>A
ENST00000682247.1:c.372T>A	ENSP00000507213.1:p.Asp124Glu
ENST00000682382.1:c.320T>A
ENST00000682395.1:n.101T>A
ENST00000682459.1:n.101T>A
ENST00000682467.1:c.372T>A	ENSP00000508062.1:p.Asp124Glu
ENST00000682795.1:c.372T>A	ENSP00000507574.1:p.Asp124Glu
ENST00000682895.1:n.88T>A
ENST00000682955.1:n.101T>A
ENST00000683188.1:c.167T>A
ENST00000683380.1:n.101T>A
ENST00000683828.1:c.241T>A
ENST00000684066.1:n.67T>A
ENST00000684102.1:n.118T>A
ENST00000684259.1:n.223T>A
ENST00000684479.1:n.39T>A
ENST00000684549.1:n.101T>A
ENST00000684600.1:c.186T>A
ENST00000684670.1:n.39T>A
ENST00000684746.1:n.69T>A
ENST00000261534.9:c.372T>A MANE Select	ENSP00000261534.4:p.Asp124Glu
ENST00000261534.8:c.372T>A	ENSP00000261534.4:p.Asp124Glu
ENST00000452340.7:n.395T>A
ENST00000553863.5:n.101T>A
ENST00000554948.1:c.99T>A	ENSP00000452060.1:p.Asp33Glu
ENST00000555675.5:n.88T>A
ENST00000555788.5:n.206T>A
ENST00000556326.5:c.*38T>A	ENSP00000450630.1:n.*38T>A
ENST00000556880.5:n.305T>A
ENST00000557525.1:n.462T>A
NM_013382.5:c.372T>A , LRG_844t1:c.372T>A	NP_037514.2:p.Asp124Glu
XM_011536675.1:c.372T>A	XP_011534977.1:p.Asp124Glu
XM_011536676.1:c.39T>A	XP_011534978.1:p.Asp13Glu
XM_011536677.1:c.372T>A	XP_011534979.1:p.Asp124Glu
XM_011536678.1:c.372T>A	XP_011534980.1:p.Asp124Glu
XM_011536680.1:c.372T>A	XP_011534982.1:p.Asp124Glu
XR_943416.1:n.575T>A
XM_011536675.2:c.372T>A	XP_011534977.1:p.Asp124Glu
XM_011536676.2:c.39T>A	XP_011534978.1:p.Asp13Glu
XM_011536677.3:c.372T>A	XP_011534979.1:p.Asp124Glu
XR_001750279.1:n.572T>A
XR_001750282.1:n.576T>A
XR_943416.3:n.573T>A
NM_013382.6:c.372T>A	NP_037514.2:p.Asp124Glu
NM_013382.7:c.372T>A MANE Select	NP_037514.2:p.Asp124Glu