Canonical Allele Identifier: CA487325149

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77767486G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77301143G>A , CM000676.2:g.77301143G>A	GRCh38
NC_000014.8:g.77767486G>A , CM000676.1:g.77767486G>A	GRCh37
NC_000014.7:g.76837239G>A	NCBI36
NG_008897.1:g.24740C>T , LRG_844:g.24740C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553863.6:c.216C>T	ENSP00000508202.1:n.216C>T
ENST00000556394.2:c.358-1582C>T	ENSP00000451967.2:n.358-1582C>T
ENST00000557289.2:c.107C>T
ENST00000682247.1:c.763C>T	ENSP00000507213.1:p.Leu255=
ENST00000682382.1:c.496-2372C>T
ENST00000682395.1:n.492C>T
ENST00000682459.1:n.427C>T
ENST00000682467.1:c.763C>T	ENSP00000508062.1:p.Leu255=
ENST00000682795.1:c.763C>T	ENSP00000507574.1:p.Leu255=
ENST00000682895.1:n.479C>T
ENST00000682955.1:n.212-2372C>T
ENST00000683167.1:c.107C>T
ENST00000683188.1:c.343-1582C>T
ENST00000683300.1:c.109+3549C>T	ENSP00000507630.1:n.109+3549C>T
ENST00000683328.1:c.109+3549C>T	ENSP00000508096.1:n.109+3549C>T
ENST00000683380.1:n.427C>T
ENST00000683398.1:c.107C>T
ENST00000683551.1:c.109+1692C>T
ENST00000683828.1:c.526-1582C>T
ENST00000684259.1:n.614C>T
ENST00000684549.1:n.368-1582C>T
ENST00000684554.1:c.107C>T
ENST00000261534.9:c.763C>T MANE Select	ENSP00000261534.4:p.Leu255=
ENST00000261534.8:c.763C>T	ENSP00000261534.4:p.Leu255=
ENST00000452340.7:n.786C>T
ENST00000553863.5:n.427C>T
ENST00000554767.5:n.21C>T
ENST00000555675.5:n.479C>T
ENST00000556326.5:c.*429C>T	ENSP00000450630.1:n.*429C>T
ENST00000557289.1:c.56-1582C>T	ENSP00000451115.1:n.56-1582C>T
NM_013382.5:c.763C>T , LRG_844t1:c.763C>T	NP_037514.2:p.Leu255=
XM_011536675.1:c.763C>T	XP_011534977.1:p.Leu255=
XM_011536676.1:c.430C>T	XP_011534978.1:p.Leu144=
XM_011536677.1:c.547+3549C>T	XP_011534979.1:n.547+3549C>T
XM_011536678.1:c.763C>T	XP_011534980.1:p.Leu255=
XM_011536679.1:c.-90-1582C>T	XP_011534981.1:n.-90-1582C>T
XM_011536680.1:c.763C>T	XP_011534982.1:p.Leu255=
XR_943416.1:n.966C>T
XM_011536675.2:c.763C>T	XP_011534977.1:p.Leu255=
XM_011536676.2:c.430C>T	XP_011534978.1:p.Leu144=
XM_011536677.3:c.547+3549C>T	XP_011534979.1:n.547+3549C>T
XR_001750279.1:n.963C>T
XR_001750282.1:n.967C>T
XR_943416.3:n.964C>T
NM_013382.6:c.763C>T	NP_037514.2:p.Leu255=
NM_013382.7:c.763C>T MANE Select	NP_037514.2:p.Leu255=