Canonical Allele Identifier: CA390517713
Gene: POMT2 HGNC NCBI

Linked Data

dbSNP Id: rs1361320389

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77286782T>C , CM000676.2:g.77286782T>C GRCh38
NC_000014.8:g.77753125T>C , CM000676.1:g.77753125T>C GRCh37
NC_000014.7:g.76822878T>C NCBI36
NG_008897.1:g.39101A>G , LRG_844:g.39101A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000556394.2:c.835A>G ENSP00000451967.2:p.Met279Val
ENST00000682247.1:c.1294A>G ENSP00000507213.1:p.Met432Val
ENST00000682382.1:c.866A>G
ENST00000682395.1:n.1472A>G
ENST00000682459.1:n.997A>G
ENST00000682467.1:c.1294A>G ENSP00000508062.1:p.Met432Val
ENST00000682706.1:n.71A>G
ENST00000682795.1:c.1294A>G ENSP00000507574.1:p.Met432Val
ENST00000682895.1:n.1010A>G
ENST00000682955.1:n.582A>G
ENST00000683188.1:c.1269A>G
ENST00000683328.1:c.287A>G ENSP00000508096.1:n.287A>G
ENST00000683380.1:n.958A>G
ENST00000683828.1:c.1003A>G
ENST00000684259.1:n.1145A>G
ENST00000684444.1:c.41A>G
ENST00000684549.1:n.845A>G
ENST00000261534.9:c.1294A>G MANE Select ENSP00000261534.4:p.Met432Val
ENST00000261534.8:c.1294A>G ENSP00000261534.4:p.Met432Val
ENST00000452340.7:n.1317A>G
ENST00000553880.5:n.165A>G
ENST00000554767.5:n.2080A>G
ENST00000554884.5:n.286A>G
ENST00000556404.1:n.428A>G
ENST00000556851.1:n.330A>G
ENST00000557675.5:n.384A>G
NM_013382.5:c.1294A>G , LRG_844t1:c.1294A>G NP_037514.2:p.Met432Val
XM_011536675.1:c.1294A>G XP_011534977.1:p.Met432Val
XM_011536676.1:c.961A>G XP_011534978.1:p.Met321Val
XM_011536677.1:c.835A>G XP_011534979.1:p.Met279Val
XM_011536678.1:c.1294A>G XP_011534980.1:p.Met432Val
XM_011536679.1:c.388A>G XP_011534981.1:p.Met130Val
XR_943416.1:n.1497A>G
XM_011536675.2:c.1294A>G XP_011534977.1:p.Met432Val
XM_011536676.2:c.961A>G XP_011534978.1:p.Met321Val
XM_011536677.3:c.835A>G XP_011534979.1:p.Met279Val
XR_001750279.1:n.1494A>G
XR_001750282.1:n.1947A>G
XR_943416.3:n.1495A>G
NM_013382.6:c.1294A>G NP_037514.2:p.Met432Val
NM_013382.7:c.1294A>G MANE Select NP_037514.2:p.Met432Val