Canonical Allele Identifier: CA7286107

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77301221G>A , CM000676.2:g.77301221G>A	GRCh38
NC_000014.8:g.77767564G>A , CM000676.1:g.77767564G>A	GRCh37
NC_000014.7:g.76837317G>A	NCBI36
NG_008897.1:g.24662C>T , LRG_844:g.24662C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_013382.7:c.685C>T MANE Select	NP_037514.2:p.Leu229Phe
ENST00000261534.9:c.685C>T MANE Select	ENSP00000261534.4:p.Leu229Phe
NM_013382.5:c.685C>T , LRG_844t1:c.685C>T	NP_037514.2:p.Leu229Phe
NM_013382.6:c.685C>T	NP_037514.2:p.Leu229Phe
ENST00000261534.8:c.685C>T	ENSP00000261534.4:p.Leu229Phe
ENST00000452340.7:n.708C>T
ENST00000553863.5:n.349C>T
ENST00000553863.6:c.138C>T	ENSP00000508202.1:p.Gly46=
ENST00000555675.5:n.401C>T
ENST00000556326.5:c.*351C>T	ENSP00000450630.1:n.*351C>T
ENST00000556394.2:c.358-1660C>T	ENSP00000451967.2:n.358-1660C>T
ENST00000556880.6:n.709C>T
ENST00000557289.1:c.56-1660C>T	ENSP00000451115.1:n.56-1660C>T
ENST00000557289.2:c.29C>T
ENST00000682247.1:c.685C>T	ENSP00000507213.1:p.Leu229Phe
ENST00000682382.1:c.496-2450C>T
ENST00000682395.1:n.414C>T
ENST00000682459.1:n.349C>T
ENST00000682467.1:c.685C>T	ENSP00000508062.1:p.Leu229Phe
ENST00000682795.1:c.685C>T	ENSP00000507574.1:p.Leu229Phe
ENST00000682895.1:n.401C>T
ENST00000682955.1:n.212-2450C>T
ENST00000683167.1:c.29C>T
ENST00000683188.1:c.343-1660C>T
ENST00000683300.1:c.109+3471C>T	ENSP00000507630.1:n.109+3471C>T
ENST00000683328.1:c.109+3471C>T	ENSP00000508096.1:n.109+3471C>T
ENST00000683380.1:n.349C>T
ENST00000683398.1:c.29C>T
ENST00000683551.1:c.109+1614C>T
ENST00000683828.1:c.525+1614C>T
ENST00000684259.1:n.536C>T
ENST00000684549.1:n.368-1660C>T
ENST00000684554.1:c.29C>T
XM_011536675.1:c.685C>T	XP_011534977.1:p.Leu229Phe
XM_011536675.2:c.685C>T	XP_011534977.1:p.Leu229Phe
XM_011536676.1:c.352C>T	XP_011534978.1:p.Leu118Phe
XM_011536676.2:c.352C>T	XP_011534978.1:p.Leu118Phe
XM_011536677.1:c.547+3471C>T	XP_011534979.1:n.547+3471C>T
XM_011536677.3:c.547+3471C>T	XP_011534979.1:n.547+3471C>T
XM_011536678.1:c.685C>T	XP_011534980.1:p.Leu229Phe
XM_011536679.1:c.-90-1660C>T	XP_011534981.1:n.-90-1660C>T
XM_011536680.1:c.685C>T	XP_011534982.1:p.Leu229Phe
XR_001750279.1:n.885C>T
XR_001750282.1:n.889C>T
XR_943416.1:n.888C>T
XR_943416.3:n.886C>T