Canonical Allele Identifier: CA263837731

Gene: POMT2

Linked Data

• dbSNP Id: rs34386446
• MyVariant Identifiers: chr14:g.77767754_77767755insA (hg19) ; chr14:g.77301411_77301412insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77301411_77301412insA , CM000676.2:g.77301411_77301412insA	GRCh38
NC_000014.8:g.77767754_77767755insA , CM000676.1:g.77767754_77767755insA	GRCh37
NC_000014.7:g.76837507_76837508insA	NCBI36
NG_008897.1:g.24471_24472insT , LRG_844:g.24471_24472insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553863.6:c.110-163_110-162insT	ENSP00000508202.1:n.110-163_110-162insT
ENST00000556394.2:c.358-1851_358-1850insT	ENSP00000451967.2:n.358-1851_358-1850insT
ENST00000556880.6:n.681-163_681-162insT
ENST00000682247.1:c.657-163_657-162insT	ENSP00000507213.1:n.657-163_657-162insT
ENST00000682382.1:c.496-2641_496-2640insT
ENST00000682395.1:n.386-163_386-162insT
ENST00000682459.1:n.321-163_321-162insT
ENST00000682467.1:c.657-163_657-162insT	ENSP00000508062.1:n.657-163_657-162insT
ENST00000682795.1:c.657-163_657-162insT	ENSP00000507574.1:n.657-163_657-162insT
ENST00000682895.1:n.373-163_373-162insT
ENST00000682955.1:n.212-2641_212-2640insT
ENST00000683188.1:c.343-1851_343-1850insT
ENST00000683300.1:c.109+3280_109+3281insT	ENSP00000507630.1:n.109+3280_109+3281insT
ENST00000683328.1:c.109+3280_109+3281insT	ENSP00000508096.1:n.109+3280_109+3281insT
ENST00000683380.1:n.321-163_321-162insT
ENST00000683551.1:c.109+1423_109+1424insT
ENST00000683828.1:c.525+1423_525+1424insT
ENST00000684259.1:n.508-163_508-162insT
ENST00000684549.1:n.368-1851_368-1850insT
ENST00000261534.9:c.657-163_657-162insT MANE Select	ENSP00000261534.4:n.657-163_657-162insT
ENST00000261534.8:c.657-163_657-162insT	ENSP00000261534.4:n.657-163_657-162insT
ENST00000452340.7:n.680-163_680-162insT
ENST00000553863.5:n.321-163_321-162insT
ENST00000554948.1:c.384-163_384-162insT	ENSP00000452060.1:n.384-163_384-162insT
ENST00000555675.5:n.373-163_373-162insT
ENST00000556326.5:c.*323-163_*323-162insT	ENSP00000450630.1:n.*323-163_*323-162insT
ENST00000557289.1:c.56-1851_56-1850insT	ENSP00000451115.1:n.56-1851_56-1850insT
NM_013382.5:c.657-163_657-162insT , LRG_844t1:c.657-163_657-162insT	NP_037514.2:n.657-163_657-162insT
XM_011536675.1:c.657-163_657-162insT	XP_011534977.1:n.657-163_657-162insT
XM_011536676.1:c.324-163_324-162insT	XP_011534978.1:n.324-163_324-162insT
XM_011536677.1:c.547+3280_547+3281insT	XP_011534979.1:n.547+3280_547+3281insT
XM_011536678.1:c.657-163_657-162insT	XP_011534980.1:n.657-163_657-162insT
XM_011536679.1:c.-90-1851_-90-1850insT	XP_011534981.1:n.-90-1851_-90-1850insT
XM_011536680.1:c.657-163_657-162insT	XP_011534982.1:n.657-163_657-162insT
XR_943416.1:n.860-163_860-162insT
XM_011536675.2:c.657-163_657-162insT	XP_011534977.1:n.657-163_657-162insT
XM_011536676.2:c.324-163_324-162insT	XP_011534978.1:n.324-163_324-162insT
XM_011536677.3:c.547+3280_547+3281insT	XP_011534979.1:n.547+3280_547+3281insT
XR_001750279.1:n.857-163_857-162insT
XR_001750282.1:n.861-163_861-162insT
XR_943416.3:n.858-163_858-162insT
NM_013382.6:c.657-163_657-162insT	NP_037514.2:n.657-163_657-162insT
NM_013382.7:c.657-163_657-162insT MANE Select	NP_037514.2:n.657-163_657-162insT