Canonical Allele Identifier: CA487509293
Gene: POMT2 HGNC NCBI

Linked Data

dbSNP Id: rs1259330969

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77278760G>A , CM000676.2:g.77278760G>A GRCh38
NC_000014.8:g.77745103G>A , CM000676.1:g.77745103G>A GRCh37
NC_000014.7:g.76814856G>A NCBI36
NG_008897.1:g.47123C>T , LRG_844:g.47123C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000555134.2:n.926C>T
ENST00000556394.2:c.1542C>T ENSP00000451967.2:p.Phe514=
ENST00000682128.1:c.302C>T ENSP00000506976.1:n.302C>T
ENST00000682247.1:c.1990C>T ENSP00000507213.1:p.Pro664Ser
ENST00000682395.1:n.2465C>T
ENST00000682459.1:n.1704C>T
ENST00000682467.1:c.1892-252C>T ENSP00000508062.1:n.1892-252C>T
ENST00000682615.1:n.355C>T
ENST00000682795.1:c.2148C>T ENSP00000507574.1:p.Phe716=
ENST00000682895.1:n.1717C>T
ENST00000682955.1:n.1575C>T
ENST00000683095.1:c.407C>T ENSP00000508040.1:n.407C>T
ENST00000683188.1:c.2262C>T
ENST00000683380.1:n.1665C>T
ENST00000683907.1:c.266C>T ENSP00000507754.1:n.266C>T
ENST00000684172.1:c.377C>T ENSP00000508391.1:n.377C>T
ENST00000684259.1:n.3768C>T
ENST00000684538.1:n.1380C>T
ENST00000684549.1:n.1552C>T
ENST00000261534.9:c.2001C>T MANE Select ENSP00000261534.4:p.Phe667=
ENST00000261534.8:c.2001C>T ENSP00000261534.4:p.Phe667=
ENST00000452340.7:n.2977C>T
ENST00000554767.5:n.2787C>T
ENST00000555710.1:c.362C>T ENSP00000451730.1:n.362C>T
ENST00000556394.1:c.88-252C>T
ENST00000556446.1:n.302C>T
ENST00000602717.5:c.216C>T ENSP00000487704.1:p.Phe72=
NM_013382.5:c.2001C>T , LRG_844t1:c.2001C>T NP_037514.2:p.Phe667=
XM_011536675.1:c.2190C>T XP_011534977.1:p.Phe730=
XM_011536676.1:c.1857C>T XP_011534978.1:p.Phe619=
XM_011536677.1:c.1731C>T XP_011534979.1:p.Phe577=
XM_011536679.1:c.1284C>T XP_011534981.1:p.Phe428=
XR_943416.1:n.2254C>T
XM_011536675.2:c.2190C>T XP_011534977.1:p.Phe730=
XM_011536676.2:c.1857C>T XP_011534978.1:p.Phe619=
XM_011536677.3:c.1731C>T XP_011534979.1:p.Phe577=
XR_001750279.1:n.2287C>T
XR_001750282.1:n.2940C>T
XR_943416.3:n.2252C>T
NM_013382.6:c.2001C>T NP_037514.2:p.Phe667=
NM_013382.7:c.2001C>T MANE Select NP_037514.2:p.Phe667=