Canonical Allele Identifier: CA10605420
Gene: POMT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 286262
dbSNP Id: rs763119319

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77285569G>T , CM000676.2:g.77285569G>T GRCh38
NC_000014.8:g.77751912G>T , CM000676.1:g.77751912G>T GRCh37
NC_000014.7:g.76821665G>T NCBI36
NG_008897.1:g.40314C>A , LRG_844:g.40314C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000555134.2:n.35C>A
ENST00000556394.2:c.937C>A ENSP00000451967.2:p.Arg313=
ENST00000682247.1:c.1396C>A ENSP00000507213.1:p.Arg466=
ENST00000682382.1:c.968C>A
ENST00000682395.1:n.1574C>A
ENST00000682459.1:n.1099C>A
ENST00000682467.1:c.1396C>A ENSP00000508062.1:p.Arg466=
ENST00000682560.1:c.64C>A ENSP00000507033.1:p.Arg22=
ENST00000682795.1:c.1396C>A ENSP00000507574.1:p.Arg466=
ENST00000682895.1:n.1112C>A
ENST00000682955.1:n.684C>A
ENST00000683188.1:c.1371C>A
ENST00000683380.1:n.1060C>A
ENST00000683828.1:c.1105C>A
ENST00000684259.1:n.1247C>A
ENST00000684444.1:c.147C>A
ENST00000684549.1:n.947C>A
ENST00000261534.9:c.1396C>A MANE Select ENSP00000261534.4:p.Arg466=
ENST00000261534.8:c.1396C>A ENSP00000261534.4:p.Arg466=
ENST00000452340.7:n.1419C>A
ENST00000553880.5:n.267C>A
ENST00000554767.5:n.2182C>A
ENST00000554884.5:n.388C>A
ENST00000555134.1:n.35C>A
ENST00000556404.1:n.530C>A
ENST00000557675.5:n.486C>A
NM_013382.5:c.1396C>A , LRG_844t1:c.1396C>A NP_037514.2:p.Arg466=
XM_011536675.1:c.1396C>A XP_011534977.1:p.Arg466=
XM_011536676.1:c.1063C>A XP_011534978.1:p.Arg355=
XM_011536677.1:c.937C>A XP_011534979.1:p.Arg313=
XM_011536678.1:c.1396C>A XP_011534980.1:p.Arg466=
XM_011536679.1:c.490C>A XP_011534981.1:p.Arg164=
XR_943416.1:n.1599C>A
XM_011536675.2:c.1396C>A XP_011534977.1:p.Arg466=
XM_011536676.2:c.1063C>A XP_011534978.1:p.Arg355=
XM_011536677.3:c.937C>A XP_011534979.1:p.Arg313=
XR_001750279.1:n.1596C>A
XR_001750282.1:n.2049C>A
XR_943416.3:n.1597C>A
NM_013382.6:c.1396C>A NP_037514.2:p.Arg466=
NM_013382.7:c.1396C>A MANE Select NP_037514.2:p.Arg466=