Canonical Allele Identifier: CA2148342228

Gene: POMT2

Linked Data

• dbSNP Id: rs1891016132

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77301025_77301028dup , CM000676.2:g.77301025_77301028dup	GRCh38
NC_000014.8:g.77767368_77767371dup , CM000676.1:g.77767368_77767371dup	GRCh37
NC_000014.7:g.76837121_76837124dup	NCBI36
NG_008897.1:g.24855_24858dup , LRG_844:g.24855_24858dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553863.6:c.269+62_269+65dup	ENSP00000508202.1:n.269+62_269+65dup
ENST00000556394.2:c.358-1467_358-1464dup	ENSP00000451967.2:n.358-1467_358-1464dup
ENST00000557289.2:c.160+62_160+65dup
ENST00000682247.1:c.816+62_816+65dup	ENSP00000507213.1:n.816+62_816+65dup
ENST00000682382.1:c.496-2257_496-2254dup
ENST00000682395.1:n.545+62_545+65dup
ENST00000682459.1:n.480+62_480+65dup
ENST00000682467.1:c.816+62_816+65dup	ENSP00000508062.1:n.816+62_816+65dup
ENST00000682795.1:c.816+62_816+65dup	ENSP00000507574.1:n.816+62_816+65dup
ENST00000682895.1:n.532+62_532+65dup
ENST00000682955.1:n.212-2257_212-2254dup
ENST00000683167.1:c.160+62_160+65dup
ENST00000683188.1:c.343-1467_343-1464dup
ENST00000683300.1:c.109+3664_109+3667dup	ENSP00000507630.1:n.109+3664_109+3667dup
ENST00000683328.1:c.109+3664_109+3667dup	ENSP00000508096.1:n.109+3664_109+3667dup
ENST00000683380.1:n.480+62_480+65dup
ENST00000683398.1:c.161-27_161-24dup
ENST00000683551.1:c.109+1807_109+1810dup
ENST00000683828.1:c.526-1467_526-1464dup
ENST00000684259.1:n.667+62_667+65dup
ENST00000684549.1:n.368-1467_368-1464dup
ENST00000684554.1:c.160+62_160+65dup
ENST00000261534.9:c.816+62_816+65dup MANE Select	ENSP00000261534.4:n.816+62_816+65dup
ENST00000261534.8:c.816+62_816+65dup	ENSP00000261534.4:n.816+62_816+65dup
ENST00000452340.7:n.839+62_839+65dup
ENST00000553863.5:n.480+62_480+65dup
ENST00000554767.5:n.136_139dup
ENST00000556326.5:c.*482+62_*482+65dup	ENSP00000450630.1:n.*482+62_*482+65dup
ENST00000557289.1:c.56-1467_56-1464dup	ENSP00000451115.1:n.56-1467_56-1464dup
NM_013382.5:c.816+62_816+65dup , LRG_844t1:c.816+62_816+65dup	NP_037514.2:n.816+62_816+65dup
XM_011536675.1:c.816+62_816+65dup	XP_011534977.1:n.816+62_816+65dup
XM_011536676.1:c.483+62_483+65dup	XP_011534978.1:n.483+62_483+65dup
XM_011536677.1:c.547+3664_547+3667dup	XP_011534979.1:n.547+3664_547+3667dup
XM_011536678.1:c.816+62_816+65dup	XP_011534980.1:n.816+62_816+65dup
XM_011536679.1:c.-90-1467_-90-1464dup	XP_011534981.1:n.-90-1467_-90-1464dup
XM_011536680.1:c.816+62_816+65dup	XP_011534982.1:n.816+62_816+65dup
XR_943416.1:n.1019+62_1019+65dup
XM_011536675.2:c.816+62_816+65dup	XP_011534977.1:n.816+62_816+65dup
XM_011536676.2:c.483+62_483+65dup	XP_011534978.1:n.483+62_483+65dup
XM_011536677.3:c.547+3664_547+3667dup	XP_011534979.1:n.547+3664_547+3667dup
XR_001750279.1:n.1016+62_1016+65dup
XR_001750282.1:n.1020+62_1020+65dup
XR_943416.3:n.1017+62_1017+65dup
NM_013382.6:c.816+62_816+65dup	NP_037514.2:n.816+62_816+65dup
NM_013382.7:c.816+62_816+65dup MANE Select	NP_037514.2:n.816+62_816+65dup