Canonical Allele Identifier: CA390519679
Gene: POMT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1017589
ClinVar RCV Id: RCV001316761
dbSNP Id: rs1890917117

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77298698T>C , CM000676.2:g.77298698T>C GRCh38
NC_000014.8:g.77765041T>C , CM000676.1:g.77765041T>C GRCh37
NC_000014.7:g.76834794T>C NCBI36
NG_008897.1:g.27185A>G , LRG_844:g.27185A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000556394.2:c.538A>G ENSP00000451967.2:p.Ile180Val
ENST00000557289.2:c.295A>G
ENST00000682247.1:c.997A>G ENSP00000507213.1:p.Ile333Val
ENST00000682382.1:c.569A>G
ENST00000682395.1:n.726A>G
ENST00000682459.1:n.661A>G
ENST00000682467.1:c.997A>G ENSP00000508062.1:p.Ile333Val
ENST00000682795.1:c.997A>G ENSP00000507574.1:p.Ile333Val
ENST00000682895.1:n.713A>G
ENST00000682955.1:n.285A>G
ENST00000683188.1:c.523A>G
ENST00000683300.1:c.110-2425A>G ENSP00000507630.1:n.110-2425A>G
ENST00000683328.1:c.109+5994A>G ENSP00000508096.1:n.109+5994A>G
ENST00000683380.1:n.661A>G
ENST00000683551.1:c.183A>G
ENST00000683828.1:c.706A>G
ENST00000684259.1:n.848A>G
ENST00000684549.1:n.548A>G
ENST00000684554.1:c.234A>G
ENST00000261534.9:c.997A>G MANE Select ENSP00000261534.4:p.Ile333Val
ENST00000261534.8:c.997A>G ENSP00000261534.4:p.Ile333Val
ENST00000452340.7:n.1020A>G
ENST00000554767.5:n.1783A>G
ENST00000557289.1:c.236A>G ENSP00000451115.1:n.236A>G
NM_013382.5:c.997A>G , LRG_844t1:c.997A>G NP_037514.2:p.Ile333Val
XM_011536675.1:c.997A>G XP_011534977.1:p.Ile333Val
XM_011536676.1:c.664A>G XP_011534978.1:p.Ile222Val
XM_011536677.1:c.548-2425A>G XP_011534979.1:n.548-2425A>G
XM_011536678.1:c.997A>G XP_011534980.1:p.Ile333Val
XM_011536679.1:c.91A>G XP_011534981.1:p.Ile31Val
XM_011536680.1:c.997A>G XP_011534982.1:p.Ile333Val
XR_943416.1:n.1200A>G
XM_011536675.2:c.997A>G XP_011534977.1:p.Ile333Val
XM_011536676.2:c.664A>G XP_011534978.1:p.Ile222Val
XM_011536677.3:c.548-2425A>G XP_011534979.1:n.548-2425A>G
XR_001750279.1:n.1197A>G
XR_001750282.1:n.1201A>G
XR_943416.3:n.1198A>G
NM_013382.6:c.997A>G NP_037514.2:p.Ile333Val
NM_013382.7:c.997A>G MANE Select NP_037514.2:p.Ile333Val