Canonical Allele Identifier: CA390517781
Gene: POMT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1417218
ClinVar RCV Id: RCV001948088
dbSNP Id: rs2140188544

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77286811T>C , CM000676.2:g.77286811T>C GRCh38
NC_000014.8:g.77753154T>C , CM000676.1:g.77753154T>C GRCh37
NC_000014.7:g.76822907T>C NCBI36
NG_008897.1:g.39072A>G , LRG_844:g.39072A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000556394.2:c.806A>G ENSP00000451967.2:p.Asn269Ser
ENST00000682247.1:c.1265A>G ENSP00000507213.1:p.Asn422Ser
ENST00000682382.1:c.837A>G
ENST00000682395.1:n.1443A>G
ENST00000682459.1:n.968A>G
ENST00000682467.1:c.1265A>G ENSP00000508062.1:p.Asn422Ser
ENST00000682706.1:n.42A>G
ENST00000682795.1:c.1265A>G ENSP00000507574.1:p.Asn422Ser
ENST00000682895.1:n.981A>G
ENST00000682955.1:n.553A>G
ENST00000683188.1:c.1240A>G
ENST00000683328.1:c.258A>G ENSP00000508096.1:n.258A>G
ENST00000683380.1:n.929A>G
ENST00000683828.1:c.974A>G
ENST00000684259.1:n.1116A>G
ENST00000684444.1:c.12A>G
ENST00000684549.1:n.816A>G
ENST00000261534.9:c.1265A>G MANE Select ENSP00000261534.4:p.Asn422Ser
ENST00000261534.8:c.1265A>G ENSP00000261534.4:p.Asn422Ser
ENST00000452340.7:n.1288A>G
ENST00000553880.5:n.136A>G
ENST00000554767.5:n.2051A>G
ENST00000554884.5:n.257A>G
ENST00000556404.1:n.399A>G
ENST00000556851.1:n.301A>G
ENST00000557675.5:n.355A>G
NM_013382.5:c.1265A>G , LRG_844t1:c.1265A>G NP_037514.2:p.Asn422Ser
XM_011536675.1:c.1265A>G XP_011534977.1:p.Asn422Ser
XM_011536676.1:c.932A>G XP_011534978.1:p.Asn311Ser
XM_011536677.1:c.806A>G XP_011534979.1:p.Asn269Ser
XM_011536678.1:c.1265A>G XP_011534980.1:p.Asn422Ser
XM_011536679.1:c.359A>G XP_011534981.1:p.Asn120Ser
XR_943416.1:n.1468A>G
XM_011536675.2:c.1265A>G XP_011534977.1:p.Asn422Ser
XM_011536676.2:c.932A>G XP_011534978.1:p.Asn311Ser
XM_011536677.3:c.806A>G XP_011534979.1:p.Asn269Ser
XR_001750279.1:n.1465A>G
XR_001750282.1:n.1918A>G
XR_943416.3:n.1466A>G
NM_013382.6:c.1265A>G NP_037514.2:p.Asn422Ser
NM_013382.7:c.1265A>G MANE Select NP_037514.2:p.Asn422Ser