Canonical Allele Identifier: CA390520226

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77767505A>T (hg19) ; chr14:g.77301162A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77301162A>T , CM000676.2:g.77301162A>T	GRCh38
NC_000014.8:g.77767505A>T , CM000676.1:g.77767505A>T	GRCh37
NC_000014.7:g.76837258A>T	NCBI36
NG_008897.1:g.24721T>A , LRG_844:g.24721T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553863.6:c.197T>A	ENSP00000508202.1:n.197T>A
ENST00000556394.2:c.358-1601T>A	ENSP00000451967.2:n.358-1601T>A
ENST00000556880.6:n.768T>A
ENST00000557289.2:c.88T>A
ENST00000682247.1:c.744T>A	ENSP00000507213.1:p.Phe248Leu
ENST00000682382.1:c.496-2391T>A
ENST00000682395.1:n.473T>A
ENST00000682459.1:n.408T>A
ENST00000682467.1:c.744T>A	ENSP00000508062.1:p.Phe248Leu
ENST00000682795.1:c.744T>A	ENSP00000507574.1:p.Phe248Leu
ENST00000682895.1:n.460T>A
ENST00000682955.1:n.212-2391T>A
ENST00000683167.1:c.88T>A
ENST00000683188.1:c.343-1601T>A
ENST00000683300.1:c.109+3530T>A	ENSP00000507630.1:n.109+3530T>A
ENST00000683328.1:c.109+3530T>A	ENSP00000508096.1:n.109+3530T>A
ENST00000683380.1:n.408T>A
ENST00000683398.1:c.88T>A
ENST00000683551.1:c.109+1673T>A
ENST00000683828.1:c.526-1601T>A
ENST00000684259.1:n.595T>A
ENST00000684549.1:n.368-1601T>A
ENST00000684554.1:c.88T>A
ENST00000261534.9:c.744T>A MANE Select	ENSP00000261534.4:p.Phe248Leu
ENST00000261534.8:c.744T>A	ENSP00000261534.4:p.Phe248Leu
ENST00000452340.7:n.767T>A
ENST00000553863.5:n.408T>A
ENST00000554767.5:n.2T>A
ENST00000555675.5:n.460T>A
ENST00000556326.5:c.*410T>A	ENSP00000450630.1:n.*410T>A
ENST00000557289.1:c.56-1601T>A	ENSP00000451115.1:n.56-1601T>A
NM_013382.5:c.744T>A , LRG_844t1:c.744T>A	NP_037514.2:p.Phe248Leu
XM_011536675.1:c.744T>A	XP_011534977.1:p.Phe248Leu
XM_011536676.1:c.411T>A	XP_011534978.1:p.Phe137Leu
XM_011536677.1:c.547+3530T>A	XP_011534979.1:n.547+3530T>A
XM_011536678.1:c.744T>A	XP_011534980.1:p.Phe248Leu
XM_011536679.1:c.-90-1601T>A	XP_011534981.1:n.-90-1601T>A
XM_011536680.1:c.744T>A	XP_011534982.1:p.Phe248Leu
XR_943416.1:n.947T>A
XM_011536675.2:c.744T>A	XP_011534977.1:p.Phe248Leu
XM_011536676.2:c.411T>A	XP_011534978.1:p.Phe137Leu
XM_011536677.3:c.547+3530T>A	XP_011534979.1:n.547+3530T>A
XR_001750279.1:n.944T>A
XR_001750282.1:n.948T>A
XR_943416.3:n.945T>A
NM_013382.6:c.744T>A	NP_037514.2:p.Phe248Leu
NM_013382.7:c.744T>A MANE Select	NP_037514.2:p.Phe248Leu