Canonical Allele Identifier: CA2148330368
Gene: POMT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77287036T= , CM000676.2:g.77287036T= GRCh38
NC_000014.8:g.77753379T= , CM000676.1:g.77753379T= GRCh37
NC_000014.7:g.76823132T= NCBI36
NG_008897.1:g.38847A= , LRG_844:g.38847A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000556394.2:c.795-214A= ENSP00000451967.2:n.795-214A=
ENST00000682247.1:c.1254-214A= ENSP00000507213.1:n.1254-214A=
ENST00000682382.1:c.826-214A=
ENST00000682395.1:n.1218A=
ENST00000682459.1:n.956+197A=
ENST00000682467.1:c.1254-214A= ENSP00000508062.1:n.1254-214A=
ENST00000682795.1:c.1254-214A= ENSP00000507574.1:n.1254-214A=
ENST00000682895.1:n.970-214A=
ENST00000682955.1:n.542-214A=
ENST00000683188.1:c.1015A=
ENST00000683328.1:c.247-214A= ENSP00000508096.1:n.247-214A=
ENST00000683380.1:n.918-214A=
ENST00000683828.1:c.963-214A=
ENST00000684259.1:n.1105-214A=
ENST00000684549.1:n.805-214A=
ENST00000261534.9:c.1254-214A= MANE Select ENSP00000261534.4:n.1254-214A=
ENST00000261534.8:c.1254-214A= ENSP00000261534.4:n.1254-214A=
ENST00000452340.7:n.1277-214A=
ENST00000553880.5:n.125-214A=
ENST00000554767.5:n.2040-214A=
ENST00000554884.5:n.246-214A=
ENST00000556404.1:n.174A=
ENST00000556851.1:n.289+197A=
ENST00000557675.5:n.344-214A=
NM_013382.5:c.1254-214A= , LRG_844t1:c.1254-214A= NP_037514.2:n.1254-214A=
XM_011536675.1:c.1254-214A= XP_011534977.1:n.1254-214A=
XM_011536676.1:c.921-214A= XP_011534978.1:n.921-214A=
XM_011536677.1:c.795-214A= XP_011534979.1:n.795-214A=
XM_011536678.1:c.1254-214A= XP_011534980.1:n.1254-214A=
XM_011536679.1:c.348-214A= XP_011534981.1:n.348-214A=
XM_011536680.1:c.*193A= XP_011534982.1:n.*193A=
XR_943416.1:n.1457-214A=
XM_011536675.2:c.1254-214A= XP_011534977.1:n.1254-214A=
XM_011536676.2:c.921-214A= XP_011534978.1:n.921-214A=
XM_011536677.3:c.795-214A= XP_011534979.1:n.795-214A=
XR_001750279.1:n.1454-214A=
XR_001750282.1:n.1693A=
XR_943416.3:n.1455-214A=
NM_013382.6:c.1254-214A= NP_037514.2:n.1254-214A=
NM_013382.7:c.1254-214A= MANE Select NP_037514.2:n.1254-214A=