Canonical Allele Identifier: CA390517694

Gene: POMT2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.844A>T	ENSP00000451967.2:p.Lys282Ter
ENST00000682247.1:c.1303A>T	ENSP00000507213.1:p.Lys435Ter
ENST00000682382.1:c.875A>T
ENST00000682395.1:n.1481A>T
ENST00000682459.1:n.1006A>T
ENST00000682467.1:c.1303A>T	ENSP00000508062.1:p.Lys435Ter
ENST00000682706.1:n.80A>T
ENST00000682795.1:c.1303A>T	ENSP00000507574.1:p.Lys435Ter
ENST00000682895.1:n.1019A>T
ENST00000682955.1:n.591A>T
ENST00000683188.1:c.1278A>T
ENST00000683328.1:c.296A>T	ENSP00000508096.1:n.296A>T
ENST00000683380.1:n.967A>T
ENST00000683828.1:c.1012A>T
ENST00000684259.1:n.1154A>T
ENST00000684444.1:c.50A>T
ENST00000684549.1:n.854A>T
ENST00000261534.9:c.1303A>T MANE Select	ENSP00000261534.4:p.Lys435Ter
ENST00000261534.8:c.1303A>T	ENSP00000261534.4:p.Lys435Ter
ENST00000452340.7:n.1326A>T
ENST00000553880.5:n.174A>T
ENST00000554767.5:n.2089A>T
ENST00000554884.5:n.295A>T
ENST00000556404.1:n.437A>T
ENST00000556851.1:n.339A>T
ENST00000557675.5:n.393A>T
NM_013382.5:c.1303A>T , LRG_844t1:c.1303A>T	NP_037514.2:p.Lys435Ter
XM_011536675.1:c.1303A>T	XP_011534977.1:p.Lys435Ter
XM_011536676.1:c.970A>T	XP_011534978.1:p.Lys324Ter
XM_011536677.1:c.844A>T	XP_011534979.1:p.Lys282Ter
XM_011536678.1:c.1303A>T	XP_011534980.1:p.Lys435Ter
XM_011536679.1:c.397A>T	XP_011534981.1:p.Lys133Ter
XR_943416.1:n.1506A>T
XM_011536675.2:c.1303A>T	XP_011534977.1:p.Lys435Ter
XM_011536676.2:c.970A>T	XP_011534978.1:p.Lys324Ter
XM_011536677.3:c.844A>T	XP_011534979.1:p.Lys282Ter
XR_001750279.1:n.1503A>T
XR_001750282.1:n.1956A>T
XR_943416.3:n.1504A>T
NM_013382.6:c.1303A>T	NP_037514.2:p.Lys435Ter
NM_013382.7:c.1303A>T MANE Select	NP_037514.2:p.Lys435Ter