Canonical Allele Identifier: CA16607712
Gene: POMT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 385744
dbSNP Id: rs1057522317

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77286725A>C , CM000676.2:g.77286725A>C GRCh38
NC_000014.8:g.77753068A>C , CM000676.1:g.77753068A>C GRCh37
NC_000014.7:g.76822821A>C NCBI36
NG_008897.1:g.39158T>G , LRG_844:g.39158T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000556394.2:c.873+19T>G ENSP00000451967.2:n.873+19T>G
ENST00000682247.1:c.1332+19T>G ENSP00000507213.1:n.1332+19T>G
ENST00000682382.1:c.904+19T>G
ENST00000682395.1:n.1510+19T>G
ENST00000682459.1:n.1035+19T>G
ENST00000682467.1:c.1332+19T>G ENSP00000508062.1:n.1332+19T>G
ENST00000682795.1:c.1332+19T>G ENSP00000507574.1:n.1332+19T>G
ENST00000682895.1:n.1048+19T>G
ENST00000682955.1:n.620+19T>G
ENST00000683188.1:c.1307+19T>G
ENST00000683380.1:n.996+19T>G
ENST00000683828.1:c.1041+19T>G
ENST00000684259.1:n.1183+19T>G
ENST00000684444.1:c.83+15T>G
ENST00000684549.1:n.883+19T>G
ENST00000261534.9:c.1332+19T>G MANE Select ENSP00000261534.4:n.1332+19T>G
ENST00000261534.8:c.1332+19T>G ENSP00000261534.4:n.1332+19T>G
ENST00000452340.7:n.1355+19T>G
ENST00000553880.5:n.203+19T>G
ENST00000554767.5:n.2118+19T>G
ENST00000554884.5:n.324+19T>G
ENST00000556404.1:n.466+19T>G
ENST00000557675.5:n.422+19T>G
NM_013382.5:c.1332+19T>G , LRG_844t1:c.1332+19T>G NP_037514.2:n.1332+19T>G
XM_011536675.1:c.1332+19T>G XP_011534977.1:n.1332+19T>G
XM_011536676.1:c.999+19T>G XP_011534978.1:n.999+19T>G
XM_011536677.1:c.873+19T>G XP_011534979.1:n.873+19T>G
XM_011536678.1:c.1332+19T>G XP_011534980.1:n.1332+19T>G
XM_011536679.1:c.426+19T>G XP_011534981.1:n.426+19T>G
XR_943416.1:n.1535+19T>G
XM_011536675.2:c.1332+19T>G XP_011534977.1:n.1332+19T>G
XM_011536676.2:c.999+19T>G XP_011534978.1:n.999+19T>G
XM_011536677.3:c.873+19T>G XP_011534979.1:n.873+19T>G
XR_001750279.1:n.1532+19T>G
XR_001750282.1:n.1985+19T>G
XR_943416.3:n.1533+19T>G
NM_013382.6:c.1332+19T>G NP_037514.2:n.1332+19T>G
NM_013382.7:c.1332+19T>G MANE Select NP_037514.2:n.1332+19T>G