Canonical Allele Identifier: CA2148329964

Gene: POMT2

Linked Data

• dbSNP Id: rs1890432054
• gnomAD v4: 14-77286613-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286613A>T , CM000676.2:g.77286613A>T	GRCh38
NC_000014.8:g.77752956A>T , CM000676.1:g.77752956A>T	GRCh37
NC_000014.7:g.76822709A>T	NCBI36
NG_008897.1:g.39270T>A , LRG_844:g.39270T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.873+131T>A	ENSP00000451967.2:n.873+131T>A
ENST00000682247.1:c.1332+131T>A	ENSP00000507213.1:n.1332+131T>A
ENST00000682382.1:c.904+131T>A
ENST00000682395.1:n.1510+131T>A
ENST00000682459.1:n.1035+131T>A
ENST00000682467.1:c.1332+131T>A	ENSP00000508062.1:n.1332+131T>A
ENST00000682795.1:c.1332+131T>A	ENSP00000507574.1:n.1332+131T>A
ENST00000682895.1:n.1048+131T>A
ENST00000682955.1:n.620+131T>A
ENST00000683188.1:c.1307+131T>A
ENST00000683380.1:n.996+131T>A
ENST00000683828.1:c.1041+131T>A
ENST00000684259.1:n.1183+131T>A
ENST00000684444.1:c.83+127T>A
ENST00000684549.1:n.883+131T>A
ENST00000261534.9:c.1332+131T>A MANE Select	ENSP00000261534.4:n.1332+131T>A
ENST00000261534.8:c.1332+131T>A	ENSP00000261534.4:n.1332+131T>A
ENST00000452340.7:n.1355+131T>A
ENST00000553880.5:n.203+131T>A
ENST00000554767.5:n.2118+131T>A
ENST00000554884.5:n.324+131T>A
ENST00000556404.1:n.466+131T>A
ENST00000557675.5:n.422+131T>A
NM_013382.5:c.1332+131T>A , LRG_844t1:c.1332+131T>A	NP_037514.2:n.1332+131T>A
XM_011536675.1:c.1332+131T>A	XP_011534977.1:n.1332+131T>A
XM_011536676.1:c.999+131T>A	XP_011534978.1:n.999+131T>A
XM_011536677.1:c.873+131T>A	XP_011534979.1:n.873+131T>A
XM_011536678.1:c.1332+131T>A	XP_011534980.1:n.1332+131T>A
XM_011536679.1:c.426+131T>A	XP_011534981.1:n.426+131T>A
XR_943416.1:n.1535+131T>A
XM_011536675.2:c.1332+131T>A	XP_011534977.1:n.1332+131T>A
XM_011536676.2:c.999+131T>A	XP_011534978.1:n.999+131T>A
XM_011536677.3:c.873+131T>A	XP_011534979.1:n.873+131T>A
XR_001750279.1:n.1532+131T>A
XR_001750282.1:n.1985+131T>A
XR_943416.3:n.1533+131T>A
NM_013382.6:c.1332+131T>A	NP_037514.2:n.1332+131T>A
NM_013382.7:c.1332+131T>A MANE Select	NP_037514.2:n.1332+131T>A