Canonical Allele Identifier: CA2575587703

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77298609C>G , CM000676.2:g.77298609C>G	GRCh38
NC_000014.8:g.77764952C>G , CM000676.1:g.77764952C>G	GRCh37
NC_000014.7:g.76834705C>G	NCBI36
NG_008897.1:g.27274G>C , LRG_844:g.27274G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000556394.2:c.547+80G>C	ENSP00000451967.2:n.547+80G>C
ENST00000557289.2:c.304+80G>C
ENST00000682247.1:c.1006+80G>C	ENSP00000507213.1:n.1006+80G>C
ENST00000682382.1:c.578+80G>C
ENST00000682395.1:n.735+80G>C
ENST00000682459.1:n.670+80G>C
ENST00000682467.1:c.1006+80G>C	ENSP00000508062.1:n.1006+80G>C
ENST00000682795.1:c.1006+80G>C	ENSP00000507574.1:n.1006+80G>C
ENST00000682895.1:n.722+80G>C
ENST00000682955.1:n.294+80G>C
ENST00000683188.1:c.532+80G>C
ENST00000683300.1:c.110-2336G>C	ENSP00000507630.1:n.110-2336G>C
ENST00000683328.1:c.109+6083G>C	ENSP00000508096.1:n.109+6083G>C
ENST00000683380.1:n.670+80G>C
ENST00000683828.1:c.715+80G>C
ENST00000684259.1:n.857+80G>C
ENST00000684549.1:n.557+80G>C
ENST00000684554.1:c.243+80G>C
ENST00000261534.9:c.1006+80G>C MANE Select	ENSP00000261534.4:n.1006+80G>C
ENST00000261534.8:c.1006+80G>C	ENSP00000261534.4:n.1006+80G>C
ENST00000452340.7:n.1029+80G>C
ENST00000554767.5:n.1792+80G>C
ENST00000557289.1:c.245+80G>C	ENSP00000451115.1:n.245+80G>C
NM_013382.5:c.1006+80G>C , LRG_844t1:c.1006+80G>C	NP_037514.2:n.1006+80G>C
XM_011536675.1:c.1006+80G>C	XP_011534977.1:n.1006+80G>C
XM_011536676.1:c.673+80G>C	XP_011534978.1:n.673+80G>C
XM_011536677.1:c.548-2336G>C	XP_011534979.1:n.548-2336G>C
XM_011536678.1:c.1006+80G>C	XP_011534980.1:n.1006+80G>C
XM_011536679.1:c.100+80G>C	XP_011534981.1:n.100+80G>C
XM_011536680.1:c.1006+80G>C	XP_011534982.1:n.1006+80G>C
XR_943416.1:n.1209+80G>C
XM_011536675.2:c.1006+80G>C	XP_011534977.1:n.1006+80G>C
XM_011536676.2:c.673+80G>C	XP_011534978.1:n.673+80G>C
XM_011536677.3:c.548-2336G>C	XP_011534979.1:n.548-2336G>C
XR_001750279.1:n.1206+80G>C
XR_001750282.1:n.1210+80G>C
XR_943416.3:n.1207+80G>C
NM_013382.6:c.1006+80G>C	NP_037514.2:n.1006+80G>C
NM_013382.7:c.1006+80G>C MANE Select	NP_037514.2:n.1006+80G>C