Canonical Allele Identifier: CA390517748
Gene: POMT2 HGNC NCBI

Linked Data

dbSNP Id: rs1446845165

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77286798G>C , CM000676.2:g.77286798G>C GRCh38
NC_000014.8:g.77753141G>C , CM000676.1:g.77753141G>C GRCh37
NC_000014.7:g.76822894G>C NCBI36
NG_008897.1:g.39085C>G , LRG_844:g.39085C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000556394.2:c.819C>G ENSP00000451967.2:p.His273Gln
ENST00000682247.1:c.1278C>G ENSP00000507213.1:p.His426Gln
ENST00000682382.1:c.850C>G
ENST00000682395.1:n.1456C>G
ENST00000682459.1:n.981C>G
ENST00000682467.1:c.1278C>G ENSP00000508062.1:p.His426Gln
ENST00000682706.1:n.55C>G
ENST00000682795.1:c.1278C>G ENSP00000507574.1:p.His426Gln
ENST00000682895.1:n.994C>G
ENST00000682955.1:n.566C>G
ENST00000683188.1:c.1253C>G
ENST00000683328.1:c.271C>G ENSP00000508096.1:n.271C>G
ENST00000683380.1:n.942C>G
ENST00000683828.1:c.987C>G
ENST00000684259.1:n.1129C>G
ENST00000684444.1:c.25C>G
ENST00000684549.1:n.829C>G
ENST00000261534.9:c.1278C>G MANE Select ENSP00000261534.4:p.His426Gln
ENST00000261534.8:c.1278C>G ENSP00000261534.4:p.His426Gln
ENST00000452340.7:n.1301C>G
ENST00000553880.5:n.149C>G
ENST00000554767.5:n.2064C>G
ENST00000554884.5:n.270C>G
ENST00000556404.1:n.412C>G
ENST00000556851.1:n.314C>G
ENST00000557675.5:n.368C>G
NM_013382.5:c.1278C>G , LRG_844t1:c.1278C>G NP_037514.2:p.His426Gln
XM_011536675.1:c.1278C>G XP_011534977.1:p.His426Gln
XM_011536676.1:c.945C>G XP_011534978.1:p.His315Gln
XM_011536677.1:c.819C>G XP_011534979.1:p.His273Gln
XM_011536678.1:c.1278C>G XP_011534980.1:p.His426Gln
XM_011536679.1:c.372C>G XP_011534981.1:p.His124Gln
XR_943416.1:n.1481C>G
XM_011536675.2:c.1278C>G XP_011534977.1:p.His426Gln
XM_011536676.2:c.945C>G XP_011534978.1:p.His315Gln
XM_011536677.3:c.819C>G XP_011534979.1:p.His273Gln
XR_001750279.1:n.1478C>G
XR_001750282.1:n.1931C>G
XR_943416.3:n.1479C>G
NM_013382.6:c.1278C>G NP_037514.2:p.His426Gln
NM_013382.7:c.1278C>G MANE Select NP_037514.2:p.His426Gln