Canonical Allele Identifier: CA7285932

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77288832C>G , CM000676.2:g.77288832C>G	GRCh38
NC_000014.8:g.77755175C>G , CM000676.1:g.77755175C>G	GRCh37
NC_000014.7:g.76824928C>G	NCBI36
NG_008897.1:g.37051G>C , LRG_844:g.37051G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_013382.7:c.1184-1G>C MANE Select	NP_037514.2:n.1184-1G>C
ENST00000261534.9:c.1184-1G>C MANE Select	ENSP00000261534.4:n.1184-1G>C
NM_013382.5:c.1184-1G>C , LRG_844t1:c.1184-1G>C	NP_037514.2:n.1184-1G>C
NM_013382.6:c.1184-1G>C	NP_037514.2:n.1184-1G>C
ENST00000261534.8:c.1184-1G>C	ENSP00000261534.4:n.1184-1G>C
ENST00000452340.7:n.1207-1G>C
ENST00000553880.5:n.55-1G>C
ENST00000554767.5:n.1970-1G>C
ENST00000556394.2:c.725-1G>C	ENSP00000451967.2:n.725-1G>C
ENST00000556851.1:n.181-1G>C
ENST00000557675.5:n.274-1G>C
ENST00000682247.1:c.1184-1G>C	ENSP00000507213.1:n.1184-1G>C
ENST00000682382.1:c.756-1G>C
ENST00000682395.1:n.913-1G>C
ENST00000682459.1:n.848-1G>C
ENST00000682467.1:c.1184-1G>C	ENSP00000508062.1:n.1184-1G>C
ENST00000682795.1:c.1184-1G>C	ENSP00000507574.1:n.1184-1G>C
ENST00000682895.1:n.900-1G>C
ENST00000682955.1:n.472-1G>C
ENST00000683188.1:c.710-1G>C
ENST00000683328.1:c.177-1G>C	ENSP00000508096.1:n.177-1G>C
ENST00000683380.1:n.848-1G>C
ENST00000683828.1:c.893-1G>C
ENST00000684259.1:n.1035-1G>C
ENST00000684549.1:n.735-1G>C
XM_011536675.1:c.1184-1G>C	XP_011534977.1:n.1184-1G>C
XM_011536675.2:c.1184-1G>C	XP_011534977.1:n.1184-1G>C
XM_011536676.1:c.851-1G>C	XP_011534978.1:n.851-1G>C
XM_011536676.2:c.851-1G>C	XP_011534978.1:n.851-1G>C
XM_011536677.1:c.725-1G>C	XP_011534979.1:n.725-1G>C
XM_011536677.3:c.725-1G>C	XP_011534979.1:n.725-1G>C
XM_011536678.1:c.1184-1G>C	XP_011534980.1:n.1184-1G>C
XM_011536679.1:c.278-1G>C	XP_011534981.1:n.278-1G>C
XM_011536680.1:c.1184-1G>C	XP_011534982.1:n.1184-1G>C
XR_001750279.1:n.1384-1G>C
XR_001750282.1:n.1388-1G>C
XR_943416.1:n.1387-1G>C
XR_943416.3:n.1385-1G>C