Canonical Allele Identifier: CA487324472
Gene: POMT2 HGNC NCBI

Linked Data

dbSNP Id: rs1446845165

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000556394.2:c.819C>T ENSP00000451967.2:p.His273=
ENST00000682247.1:c.1278C>T ENSP00000507213.1:p.His426=
ENST00000682382.1:c.850C>T
ENST00000682395.1:n.1456C>T
ENST00000682459.1:n.981C>T
ENST00000682467.1:c.1278C>T ENSP00000508062.1:p.His426=
ENST00000682706.1:n.55C>T
ENST00000682795.1:c.1278C>T ENSP00000507574.1:p.His426=
ENST00000682895.1:n.994C>T
ENST00000682955.1:n.566C>T
ENST00000683188.1:c.1253C>T
ENST00000683328.1:c.271C>T ENSP00000508096.1:n.271C>T
ENST00000683380.1:n.942C>T
ENST00000683828.1:c.987C>T
ENST00000684259.1:n.1129C>T
ENST00000684444.1:c.25C>T
ENST00000684549.1:n.829C>T
ENST00000261534.9:c.1278C>T MANE Select ENSP00000261534.4:p.His426=
ENST00000261534.8:c.1278C>T ENSP00000261534.4:p.His426=
ENST00000452340.7:n.1301C>T
ENST00000553880.5:n.149C>T
ENST00000554767.5:n.2064C>T
ENST00000554884.5:n.270C>T
ENST00000556404.1:n.412C>T
ENST00000556851.1:n.314C>T
ENST00000557675.5:n.368C>T
NM_013382.5:c.1278C>T , LRG_844t1:c.1278C>T NP_037514.2:p.His426=
XM_011536675.1:c.1278C>T XP_011534977.1:p.His426=
XM_011536676.1:c.945C>T XP_011534978.1:p.His315=
XM_011536677.1:c.819C>T XP_011534979.1:p.His273=
XM_011536678.1:c.1278C>T XP_011534980.1:p.His426=
XM_011536679.1:c.372C>T XP_011534981.1:p.His124=
XR_943416.1:n.1481C>T
XM_011536675.2:c.1278C>T XP_011534977.1:p.His426=
XM_011536676.2:c.945C>T XP_011534978.1:p.His315=
XM_011536677.3:c.819C>T XP_011534979.1:p.His273=
XR_001750279.1:n.1478C>T
XR_001750282.1:n.1931C>T
XR_943416.3:n.1479C>T
NM_013382.6:c.1278C>T NP_037514.2:p.His426=
NM_013382.7:c.1278C>T MANE Select NP_037514.2:p.His426=