Canonical Allele Identifier: CA7285509

Gene: POMT2

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77277365T>C , CM000676.2:g.77277365T>C	GRCh38
NC_000014.8:g.77743708T>C , CM000676.1:g.77743708T>C	GRCh37
NC_000014.7:g.76813461T>C	NCBI36
NG_008897.1:g.48518A>G , LRG_844:g.48518A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.1189A>G
ENST00000556394.2:c.*11A>G	ENSP00000451967.2:n.*11A>G
ENST00000682247.1:c.2253A>G	ENSP00000507213.1:p.Gln751=
ENST00000682395.1:n.2728A>G
ENST00000682459.1:n.1967A>G
ENST00000682467.1:c.*11A>G	ENSP00000508062.1:n.*11A>G
ENST00000682795.1:c.*11A>G	ENSP00000507574.1:n.*11A>G
ENST00000682895.1:n.1980A>G
ENST00000682897.1:c.117A>G
ENST00000682955.1:n.1838A>G
ENST00000683188.1:c.2525A>G
ENST00000683380.1:n.1928A>G
ENST00000683784.1:c.117A>G
ENST00000684259.1:n.4031A>G
ENST00000684538.1:n.1643A>G
ENST00000684549.1:n.1815A>G
ENST00000261534.9:c.*11A>G MANE Select	ENSP00000261534.4:n.*11A>G
ENST00000261534.8:c.*11A>G	ENSP00000261534.4:n.*11A>G
ENST00000452340.7:n.3240A>G
ENST00000554767.5:n.3050A>G
ENST00000556394.1:c.319A>G
ENST00000602717.5:c.363-87A>G	ENSP00000487704.1:n.363-87A>G
NM_013382.5:c.*11A>G , LRG_844t1:c.*11A>G	NP_037514.2:n.*11A>G
XM_011536675.1:c.*11A>G	XP_011534977.1:n.*11A>G
XM_011536676.1:c.*11A>G	XP_011534978.1:n.*11A>G
XM_011536677.1:c.*11A>G	XP_011534979.1:n.*11A>G
XM_011536679.1:c.*11A>G	XP_011534981.1:n.*11A>G
XM_011536675.2:c.*11A>G	XP_011534977.1:n.*11A>G
XM_011536676.2:c.*11A>G	XP_011534978.1:n.*11A>G
XM_011536677.3:c.*11A>G	XP_011534979.1:n.*11A>G
XR_001750279.1:n.2550A>G
XR_001750282.1:n.3203A>G
XR_943416.3:n.2515A>G
NM_013382.6:c.*11A>G	NP_037514.2:n.*11A>G
NM_013382.7:c.*11A>G MANE Select	NP_037514.2:n.*11A>G