Canonical Allele Identifier: CA390520658

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77302945T>C , CM000676.2:g.77302945T>C	GRCh38
NC_000014.8:g.77769288T>C , CM000676.1:g.77769288T>C	GRCh37
NC_000014.7:g.76839041T>C	NCBI36
NG_008897.1:g.22938A>G , LRG_844:g.22938A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_013382.7:c.548-2A>G MANE Select	NP_037514.2:n.548-2A>G
ENST00000261534.9:c.548-2A>G MANE Select	ENSP00000261534.4:n.548-2A>G
NM_013382.5:c.548-2A>G , LRG_844t1:c.548-2A>G	NP_037514.2:n.548-2A>G
NM_013382.6:c.548-2A>G	NP_037514.2:n.548-2A>G
ENST00000261534.8:c.548-2A>G	ENSP00000261534.4:n.548-2A>G
ENST00000452340.7:n.571-2A>G
ENST00000553863.5:n.212-2A>G
ENST00000553863.6:c.110-1696A>G	ENSP00000508202.1:n.110-1696A>G
ENST00000554948.1:c.275-2A>G	ENSP00000452060.1:n.275-2A>G
ENST00000555675.5:n.264-2A>G
ENST00000555675.6:n.1813-2A>G
ENST00000556326.5:c.*214-2A>G	ENSP00000450630.1:n.*214-2A>G
ENST00000556394.2:c.357+1747A>G	ENSP00000451967.2:n.357+1747A>G
ENST00000556880.5:n.572-2A>G
ENST00000556880.6:n.572-2A>G
ENST00000557289.1:c.55+1747A>G	ENSP00000451115.1:n.55+1747A>G
ENST00000682247.1:c.548-2A>G	ENSP00000507213.1:n.548-2A>G
ENST00000682377.1:c.126A>G	ENSP00000507494.1:p.Ser42=
ENST00000682382.1:c.495+1747A>G
ENST00000682395.1:n.277-2A>G
ENST00000682459.1:n.212-2A>G
ENST00000682467.1:c.548-2A>G	ENSP00000508062.1:n.548-2A>G
ENST00000682795.1:c.548-2A>G	ENSP00000507574.1:n.548-2A>G
ENST00000682895.1:n.264-2A>G
ENST00000682955.1:n.211+1747A>G
ENST00000683188.1:c.342+1747A>G
ENST00000683300.1:c.109+1747A>G	ENSP00000507630.1:n.109+1747A>G
ENST00000683328.1:c.109+1747A>G	ENSP00000508096.1:n.109+1747A>G
ENST00000683380.1:n.212-2A>G
ENST00000683828.1:c.417-2A>G
ENST00000684102.1:n.1830-2A>G
ENST00000684259.1:n.399-2A>G
ENST00000684549.1:n.367+1747A>G
XM_011536675.1:c.548-2A>G	XP_011534977.1:n.548-2A>G
XM_011536675.2:c.548-2A>G	XP_011534977.1:n.548-2A>G
XM_011536676.1:c.215-2A>G	XP_011534978.1:n.215-2A>G
XM_011536676.2:c.215-2A>G	XP_011534978.1:n.215-2A>G
XM_011536677.1:c.547+1747A>G	XP_011534979.1:n.547+1747A>G
XM_011536677.3:c.547+1747A>G	XP_011534979.1:n.547+1747A>G
XM_011536678.1:c.548-2A>G	XP_011534980.1:n.548-2A>G
XM_011536679.1:c.-91+1747A>G	XP_011534981.1:n.-91+1747A>G
XM_011536680.1:c.548-2A>G	XP_011534982.1:n.548-2A>G
XR_001750279.1:n.748-2A>G
XR_001750282.1:n.752-2A>G
XR_943416.1:n.751-2A>G
XR_943416.3:n.749-2A>G