Canonical Allele Identifier: CA390517673
Gene: POMT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2953272
ClinVar RCV Id: RCV003810390

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77286765A>C , CM000676.2:g.77286765A>C GRCh38
NC_000014.8:g.77753108A>C , CM000676.1:g.77753108A>C GRCh37
NC_000014.7:g.76822861A>C NCBI36
NG_008897.1:g.39118T>G , LRG_844:g.39118T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000556394.2:c.852T>G ENSP00000451967.2:p.Tyr284Ter
ENST00000682247.1:c.1311T>G ENSP00000507213.1:p.Tyr437Ter
ENST00000682382.1:c.883T>G
ENST00000682395.1:n.1489T>G
ENST00000682459.1:n.1014T>G
ENST00000682467.1:c.1311T>G ENSP00000508062.1:p.Tyr437Ter
ENST00000682706.1:n.88T>G
ENST00000682795.1:c.1311T>G ENSP00000507574.1:p.Tyr437Ter
ENST00000682895.1:n.1027T>G
ENST00000682955.1:n.599T>G
ENST00000683188.1:c.1286T>G
ENST00000683328.1:c.304T>G ENSP00000508096.1:n.304T>G
ENST00000683380.1:n.975T>G
ENST00000683828.1:c.1020T>G
ENST00000684259.1:n.1162T>G
ENST00000684444.1:c.58T>G
ENST00000684549.1:n.862T>G
ENST00000261534.9:c.1311T>G MANE Select ENSP00000261534.4:p.Tyr437Ter
ENST00000261534.8:c.1311T>G ENSP00000261534.4:p.Tyr437Ter
ENST00000452340.7:n.1334T>G
ENST00000553880.5:n.182T>G
ENST00000554767.5:n.2097T>G
ENST00000554884.5:n.303T>G
ENST00000556404.1:n.445T>G
ENST00000556851.1:n.347T>G
ENST00000557675.5:n.401T>G
NM_013382.5:c.1311T>G , LRG_844t1:c.1311T>G NP_037514.2:p.Tyr437Ter
XM_011536675.1:c.1311T>G XP_011534977.1:p.Tyr437Ter
XM_011536676.1:c.978T>G XP_011534978.1:p.Tyr326Ter
XM_011536677.1:c.852T>G XP_011534979.1:p.Tyr284Ter
XM_011536678.1:c.1311T>G XP_011534980.1:p.Tyr437Ter
XM_011536679.1:c.405T>G XP_011534981.1:p.Tyr135Ter
XR_943416.1:n.1514T>G
XM_011536675.2:c.1311T>G XP_011534977.1:p.Tyr437Ter
XM_011536676.2:c.978T>G XP_011534978.1:p.Tyr326Ter
XM_011536677.3:c.852T>G XP_011534979.1:p.Tyr284Ter
XR_001750279.1:n.1511T>G
XR_001750282.1:n.1964T>G
XR_943416.3:n.1512T>G
NM_013382.6:c.1311T>G NP_037514.2:p.Tyr437Ter
NM_013382.7:c.1311T>G MANE Select NP_037514.2:p.Tyr437Ter