Canonical Allele Identifier: CA263824227

Gene: POMT2

Linked Data

• ClinVar Variation Id: 471385
• ClinVar RCV Id: RCV001432722
• dbSNP Id: rs898725472
• MyVariant Identifiers: chr14:g.77753102G>A (hg19) ; chr14:g.77286759G>A (hg38)

Genomic Alleles

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

Transcript Alleles

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