Canonical Allele Identifier: CA390521000

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77772717T>G (hg19) ; chr14:g.77306374T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77306374T>G , CM000676.2:g.77306374T>G	GRCh38
NC_000014.8:g.77772717T>G , CM000676.1:g.77772717T>G	GRCh37
NC_000014.7:g.76842470T>G	NCBI36
NG_008897.1:g.19509A>C , LRG_844:g.19509A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555675.6:n.130A>C
ENST00000556394.2:c.249-1574A>C	ENSP00000451967.2:n.249-1574A>C
ENST00000556880.6:n.334A>C
ENST00000682247.1:c.401A>C	ENSP00000507213.1:p.Asp134Ala
ENST00000682382.1:c.349A>C
ENST00000682395.1:n.130A>C
ENST00000682459.1:n.102+28A>C
ENST00000682467.1:c.401A>C	ENSP00000508062.1:p.Asp134Ala
ENST00000682795.1:c.401A>C	ENSP00000507574.1:p.Asp134Ala
ENST00000682895.1:n.117A>C
ENST00000682955.1:n.102+28A>C
ENST00000683188.1:c.196A>C
ENST00000683380.1:n.102+28A>C
ENST00000683828.1:c.270A>C
ENST00000684066.1:n.96A>C
ENST00000684102.1:n.147A>C
ENST00000684259.1:n.252A>C
ENST00000684479.1:n.68A>C
ENST00000684549.1:n.130A>C
ENST00000684600.1:c.215A>C
ENST00000684670.1:n.68A>C
ENST00000684746.1:n.98A>C
ENST00000261534.9:c.401A>C MANE Select	ENSP00000261534.4:p.Asp134Ala
ENST00000261534.8:c.401A>C	ENSP00000261534.4:p.Asp134Ala
ENST00000452340.7:n.424A>C
ENST00000553863.5:n.102+28A>C
ENST00000554948.1:c.128A>C	ENSP00000452060.1:p.Asp43Ala
ENST00000555675.5:n.117A>C
ENST00000555788.5:n.235A>C
ENST00000556326.5:c.*67A>C	ENSP00000450630.1:n.*67A>C
ENST00000556880.5:n.334A>C
ENST00000557525.1:n.491A>C
NM_013382.5:c.401A>C , LRG_844t1:c.401A>C	NP_037514.2:p.Asp134Ala
XM_011536675.1:c.401A>C	XP_011534977.1:p.Asp134Ala
XM_011536676.1:c.68A>C	XP_011534978.1:p.Asp23Ala
XM_011536677.1:c.401A>C	XP_011534979.1:p.Asp134Ala
XM_011536678.1:c.401A>C	XP_011534980.1:p.Asp134Ala
XM_011536680.1:c.401A>C	XP_011534982.1:p.Asp134Ala
XR_943416.1:n.604A>C
XM_011536675.2:c.401A>C	XP_011534977.1:p.Asp134Ala
XM_011536676.2:c.68A>C	XP_011534978.1:p.Asp23Ala
XM_011536677.3:c.401A>C	XP_011534979.1:p.Asp134Ala
XR_001750279.1:n.601A>C
XR_001750282.1:n.605A>C
XR_943416.3:n.602A>C
NM_013382.6:c.401A>C	NP_037514.2:p.Asp134Ala
NM_013382.7:c.401A>C MANE Select	NP_037514.2:p.Asp134Ala