Canonical Allele Identifier: CA390517695

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77753116T>C (hg19) ; chr14:g.77286773T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286773T>C , CM000676.2:g.77286773T>C	GRCh38
NC_000014.8:g.77753116T>C , CM000676.1:g.77753116T>C	GRCh37
NC_000014.7:g.76822869T>C	NCBI36
NG_008897.1:g.39110A>G , LRG_844:g.39110A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.844A>G	ENSP00000451967.2:p.Lys282Glu
ENST00000682247.1:c.1303A>G	ENSP00000507213.1:p.Lys435Glu
ENST00000682382.1:c.875A>G
ENST00000682395.1:n.1481A>G
ENST00000682459.1:n.1006A>G
ENST00000682467.1:c.1303A>G	ENSP00000508062.1:p.Lys435Glu
ENST00000682706.1:n.80A>G
ENST00000682795.1:c.1303A>G	ENSP00000507574.1:p.Lys435Glu
ENST00000682895.1:n.1019A>G
ENST00000682955.1:n.591A>G
ENST00000683188.1:c.1278A>G
ENST00000683328.1:c.296A>G	ENSP00000508096.1:n.296A>G
ENST00000683380.1:n.967A>G
ENST00000683828.1:c.1012A>G
ENST00000684259.1:n.1154A>G
ENST00000684444.1:c.50A>G
ENST00000684549.1:n.854A>G
ENST00000261534.9:c.1303A>G MANE Select	ENSP00000261534.4:p.Lys435Glu
ENST00000261534.8:c.1303A>G	ENSP00000261534.4:p.Lys435Glu
ENST00000452340.7:n.1326A>G
ENST00000553880.5:n.174A>G
ENST00000554767.5:n.2089A>G
ENST00000554884.5:n.295A>G
ENST00000556404.1:n.437A>G
ENST00000556851.1:n.339A>G
ENST00000557675.5:n.393A>G
NM_013382.5:c.1303A>G , LRG_844t1:c.1303A>G	NP_037514.2:p.Lys435Glu
XM_011536675.1:c.1303A>G	XP_011534977.1:p.Lys435Glu
XM_011536676.1:c.970A>G	XP_011534978.1:p.Lys324Glu
XM_011536677.1:c.844A>G	XP_011534979.1:p.Lys282Glu
XM_011536678.1:c.1303A>G	XP_011534980.1:p.Lys435Glu
XM_011536679.1:c.397A>G	XP_011534981.1:p.Lys133Glu
XR_943416.1:n.1506A>G
XM_011536675.2:c.1303A>G	XP_011534977.1:p.Lys435Glu
XM_011536676.2:c.970A>G	XP_011534978.1:p.Lys324Glu
XM_011536677.3:c.844A>G	XP_011534979.1:p.Lys282Glu
XR_001750279.1:n.1503A>G
XR_001750282.1:n.1956A>G
XR_943416.3:n.1504A>G
NM_013382.6:c.1303A>G	NP_037514.2:p.Lys435Glu
NM_013382.7:c.1303A>G MANE Select	NP_037514.2:p.Lys435Glu