Canonical Allele Identifier: CA487324453

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77753102G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286759G>T , CM000676.2:g.77286759G>T	GRCh38
NC_000014.8:g.77753102G>T , CM000676.1:g.77753102G>T	GRCh37
NC_000014.7:g.76822855G>T	NCBI36
NG_008897.1:g.39124C>A , LRG_844:g.39124C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.858C>A	ENSP00000451967.2:p.Val286=
ENST00000682247.1:c.1317C>A	ENSP00000507213.1:p.Val439=
ENST00000682382.1:c.889C>A
ENST00000682395.1:n.1495C>A
ENST00000682459.1:n.1020C>A
ENST00000682467.1:c.1317C>A	ENSP00000508062.1:p.Val439=
ENST00000682706.1:n.94C>A
ENST00000682795.1:c.1317C>A	ENSP00000507574.1:p.Val439=
ENST00000682895.1:n.1033C>A
ENST00000682955.1:n.605C>A
ENST00000683188.1:c.1292C>A
ENST00000683328.1:c.310C>A	ENSP00000508096.1:n.310C>A
ENST00000683380.1:n.981C>A
ENST00000683828.1:c.1026C>A
ENST00000684259.1:n.1168C>A
ENST00000684444.1:c.64C>A
ENST00000684549.1:n.868C>A
ENST00000261534.9:c.1317C>A MANE Select	ENSP00000261534.4:p.Val439=
ENST00000261534.8:c.1317C>A	ENSP00000261534.4:p.Val439=
ENST00000452340.7:n.1340C>A
ENST00000553880.5:n.188C>A
ENST00000554767.5:n.2103C>A
ENST00000554884.5:n.309C>A
ENST00000556404.1:n.451C>A
ENST00000556851.1:n.353C>A
ENST00000557675.5:n.407C>A
NM_013382.5:c.1317C>A , LRG_844t1:c.1317C>A	NP_037514.2:p.Val439=
XM_011536675.1:c.1317C>A	XP_011534977.1:p.Val439=
XM_011536676.1:c.984C>A	XP_011534978.1:p.Val328=
XM_011536677.1:c.858C>A	XP_011534979.1:p.Val286=
XM_011536678.1:c.1317C>A	XP_011534980.1:p.Val439=
XM_011536679.1:c.411C>A	XP_011534981.1:p.Val137=
XR_943416.1:n.1520C>A
XM_011536675.2:c.1317C>A	XP_011534977.1:p.Val439=
XM_011536676.2:c.984C>A	XP_011534978.1:p.Val328=
XM_011536677.3:c.858C>A	XP_011534979.1:p.Val286=
XR_001750279.1:n.1517C>A
XR_001750282.1:n.1970C>A
XR_943416.3:n.1518C>A
NM_013382.6:c.1317C>A	NP_037514.2:p.Val439=
NM_013382.7:c.1317C>A MANE Select	NP_037514.2:p.Val439=