Canonical Allele Identifier: CA487324828
Gene: POMT2 HGNC NCBI

Linked Data

dbSNP Id: rs1477230440

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77298696G>T , CM000676.2:g.77298696G>T GRCh38
NC_000014.8:g.77765039G>T , CM000676.1:g.77765039G>T GRCh37
NC_000014.7:g.76834792G>T NCBI36
NG_008897.1:g.27187C>A , LRG_844:g.27187C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000556394.2:c.540C>A ENSP00000451967.2:p.Ile180=
ENST00000557289.2:c.297C>A
ENST00000682247.1:c.999C>A ENSP00000507213.1:p.Ile333=
ENST00000682382.1:c.571C>A
ENST00000682395.1:n.728C>A
ENST00000682459.1:n.663C>A
ENST00000682467.1:c.999C>A ENSP00000508062.1:p.Ile333=
ENST00000682795.1:c.999C>A ENSP00000507574.1:p.Ile333=
ENST00000682895.1:n.715C>A
ENST00000682955.1:n.287C>A
ENST00000683188.1:c.525C>A
ENST00000683300.1:c.110-2423C>A ENSP00000507630.1:n.110-2423C>A
ENST00000683328.1:c.109+5996C>A ENSP00000508096.1:n.109+5996C>A
ENST00000683380.1:n.663C>A
ENST00000683551.1:c.185C>A
ENST00000683828.1:c.708C>A
ENST00000684259.1:n.850C>A
ENST00000684549.1:n.550C>A
ENST00000684554.1:c.236C>A
ENST00000261534.9:c.999C>A MANE Select ENSP00000261534.4:p.Ile333=
ENST00000261534.8:c.999C>A ENSP00000261534.4:p.Ile333=
ENST00000452340.7:n.1022C>A
ENST00000554767.5:n.1785C>A
ENST00000557289.1:c.238C>A ENSP00000451115.1:n.238C>A
NM_013382.5:c.999C>A , LRG_844t1:c.999C>A NP_037514.2:p.Ile333=
XM_011536675.1:c.999C>A XP_011534977.1:p.Ile333=
XM_011536676.1:c.666C>A XP_011534978.1:p.Ile222=
XM_011536677.1:c.548-2423C>A XP_011534979.1:n.548-2423C>A
XM_011536678.1:c.999C>A XP_011534980.1:p.Ile333=
XM_011536679.1:c.93C>A XP_011534981.1:p.Ile31=
XM_011536680.1:c.999C>A XP_011534982.1:p.Ile333=
XR_943416.1:n.1202C>A
XM_011536675.2:c.999C>A XP_011534977.1:p.Ile333=
XM_011536676.2:c.666C>A XP_011534978.1:p.Ile222=
XM_011536677.3:c.548-2423C>A XP_011534979.1:n.548-2423C>A
XR_001750279.1:n.1199C>A
XR_001750282.1:n.1203C>A
XR_943416.3:n.1200C>A
NM_013382.6:c.999C>A NP_037514.2:p.Ile333=
NM_013382.7:c.999C>A MANE Select NP_037514.2:p.Ile333=