Canonical Allele Identifier: CA390517729

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77753133T>G (hg19) ; chr14:g.77286790T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286790T>G , CM000676.2:g.77286790T>G	GRCh38
NC_000014.8:g.77753133T>G , CM000676.1:g.77753133T>G	GRCh37
NC_000014.7:g.76822886T>G	NCBI36
NG_008897.1:g.39093A>C , LRG_844:g.39093A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.827A>C	ENSP00000451967.2:p.Glu276Ala
ENST00000682247.1:c.1286A>C	ENSP00000507213.1:p.Glu429Ala
ENST00000682382.1:c.858A>C
ENST00000682395.1:n.1464A>C
ENST00000682459.1:n.989A>C
ENST00000682467.1:c.1286A>C	ENSP00000508062.1:p.Glu429Ala
ENST00000682706.1:n.63A>C
ENST00000682795.1:c.1286A>C	ENSP00000507574.1:p.Glu429Ala
ENST00000682895.1:n.1002A>C
ENST00000682955.1:n.574A>C
ENST00000683188.1:c.1261A>C
ENST00000683328.1:c.279A>C	ENSP00000508096.1:n.279A>C
ENST00000683380.1:n.950A>C
ENST00000683828.1:c.995A>C
ENST00000684259.1:n.1137A>C
ENST00000684444.1:c.33A>C
ENST00000684549.1:n.837A>C
ENST00000261534.9:c.1286A>C MANE Select	ENSP00000261534.4:p.Glu429Ala
ENST00000261534.8:c.1286A>C	ENSP00000261534.4:p.Glu429Ala
ENST00000452340.7:n.1309A>C
ENST00000553880.5:n.157A>C
ENST00000554767.5:n.2072A>C
ENST00000554884.5:n.278A>C
ENST00000556404.1:n.420A>C
ENST00000556851.1:n.322A>C
ENST00000557675.5:n.376A>C
NM_013382.5:c.1286A>C , LRG_844t1:c.1286A>C	NP_037514.2:p.Glu429Ala
XM_011536675.1:c.1286A>C	XP_011534977.1:p.Glu429Ala
XM_011536676.1:c.953A>C	XP_011534978.1:p.Glu318Ala
XM_011536677.1:c.827A>C	XP_011534979.1:p.Glu276Ala
XM_011536678.1:c.1286A>C	XP_011534980.1:p.Glu429Ala
XM_011536679.1:c.380A>C	XP_011534981.1:p.Glu127Ala
XR_943416.1:n.1489A>C
XM_011536675.2:c.1286A>C	XP_011534977.1:p.Glu429Ala
XM_011536676.2:c.953A>C	XP_011534978.1:p.Glu318Ala
XM_011536677.3:c.827A>C	XP_011534979.1:p.Glu276Ala
XR_001750279.1:n.1486A>C
XR_001750282.1:n.1939A>C
XR_943416.3:n.1487A>C
NM_013382.6:c.1286A>C	NP_037514.2:p.Glu429Ala
NM_013382.7:c.1286A>C MANE Select	NP_037514.2:p.Glu429Ala