Canonical Allele Identifier: CA487325340

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77302837G>A , CM000676.2:g.77302837G>A	GRCh38
NC_000014.8:g.77769180G>A , CM000676.1:g.77769180G>A	GRCh37
NC_000014.7:g.76838933G>A	NCBI36
NG_008897.1:g.23046C>T , LRG_844:g.23046C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_013382.7:c.654C>T MANE Select	NP_037514.2:p.Asp218=
ENST00000261534.9:c.654C>T MANE Select	ENSP00000261534.4:p.Asp218=
NM_013382.5:c.654C>T , LRG_844t1:c.654C>T	NP_037514.2:p.Asp218=
NM_013382.6:c.654C>T	NP_037514.2:p.Asp218=
ENST00000261534.8:c.654C>T	ENSP00000261534.4:p.Asp218=
ENST00000452340.7:n.677C>T
ENST00000553863.5:n.318C>T
ENST00000553863.6:c.110-1588C>T	ENSP00000508202.1:n.110-1588C>T
ENST00000554948.1:c.381C>T	ENSP00000452060.1:p.Asp127=
ENST00000555675.5:n.370C>T
ENST00000556326.5:c.*320C>T	ENSP00000450630.1:n.*320C>T
ENST00000556394.2:c.357+1855C>T	ENSP00000451967.2:n.357+1855C>T
ENST00000556880.5:n.678C>T
ENST00000556880.6:n.678C>T
ENST00000557289.1:c.55+1855C>T	ENSP00000451115.1:n.55+1855C>T
ENST00000682247.1:c.654C>T	ENSP00000507213.1:p.Asp218=
ENST00000682377.1:c.234C>T	ENSP00000507494.1:p.Asp78=
ENST00000682382.1:c.495+1855C>T
ENST00000682395.1:n.383C>T
ENST00000682459.1:n.318C>T
ENST00000682467.1:c.654C>T	ENSP00000508062.1:p.Asp218=
ENST00000682795.1:c.654C>T	ENSP00000507574.1:p.Asp218=
ENST00000682895.1:n.370C>T
ENST00000682955.1:n.211+1855C>T
ENST00000683188.1:c.342+1855C>T
ENST00000683300.1:c.109+1855C>T	ENSP00000507630.1:n.109+1855C>T
ENST00000683328.1:c.109+1855C>T	ENSP00000508096.1:n.109+1855C>T
ENST00000683380.1:n.318C>T
ENST00000683551.1:c.107C>T
ENST00000683828.1:c.523C>T
ENST00000684259.1:n.505C>T
ENST00000684549.1:n.367+1855C>T
XM_011536675.1:c.654C>T	XP_011534977.1:p.Asp218=
XM_011536675.2:c.654C>T	XP_011534977.1:p.Asp218=
XM_011536676.1:c.321C>T	XP_011534978.1:p.Asp107=
XM_011536676.2:c.321C>T	XP_011534978.1:p.Asp107=
XM_011536677.1:c.547+1855C>T	XP_011534979.1:n.547+1855C>T
XM_011536677.3:c.547+1855C>T	XP_011534979.1:n.547+1855C>T
XM_011536678.1:c.654C>T	XP_011534980.1:p.Asp218=
XM_011536679.1:c.-91+1855C>T	XP_011534981.1:n.-91+1855C>T
XM_011536680.1:c.654C>T	XP_011534982.1:p.Asp218=
XR_001750279.1:n.854C>T
XR_001750282.1:n.858C>T
XR_943416.1:n.857C>T
XR_943416.3:n.855C>T