Canonical Allele Identifier: CA2148342396

Gene: POMT2

Linked Data

• dbSNP Id: rs1891025103

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77301189dup , CM000676.2:g.77301189dup	GRCh38
NC_000014.8:g.77767532dup , CM000676.1:g.77767532dup	GRCh37
NC_000014.7:g.76837285dup	NCBI36
NG_008897.1:g.24696dup , LRG_844:g.24696dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553863.6:c.172dup	ENSP00000508202.1:n.172dup
ENST00000556394.2:c.358-1626dup	ENSP00000451967.2:n.358-1626dup
ENST00000556880.6:n.743dup
ENST00000557289.2:c.63dup
ENST00000682247.1:c.719dup	ENSP00000507213.1:p.Leu240PhefsTer?
ENST00000682382.1:c.496-2416dup
ENST00000682395.1:n.448dup
ENST00000682459.1:n.383dup
ENST00000682467.1:c.719dup	ENSP00000508062.1:p.Leu240PhefsTer?
ENST00000682795.1:c.719dup	ENSP00000507574.1:p.Leu240PhefsTer?
ENST00000682895.1:n.435dup
ENST00000682955.1:n.212-2416dup
ENST00000683167.1:c.63dup
ENST00000683188.1:c.343-1626dup
ENST00000683300.1:c.109+3505dup	ENSP00000507630.1:n.109+3505dup
ENST00000683328.1:c.109+3505dup	ENSP00000508096.1:n.109+3505dup
ENST00000683380.1:n.383dup
ENST00000683398.1:c.63dup
ENST00000683551.1:c.109+1648dup
ENST00000683828.1:c.526-1626dup
ENST00000684259.1:n.570dup
ENST00000684549.1:n.368-1626dup
ENST00000684554.1:c.63dup
ENST00000261534.9:c.719dup MANE Select	ENSP00000261534.4:p.Leu240PhefsTer?
ENST00000261534.8:c.719dup	ENSP00000261534.4:p.Leu240PhefsTer?
ENST00000452340.7:n.742dup
ENST00000553863.5:n.383dup
ENST00000555675.5:n.435dup
ENST00000556326.5:c.*385dup	ENSP00000450630.1:n.*385dup
ENST00000557289.1:c.56-1626dup	ENSP00000451115.1:n.56-1626dup
NM_013382.5:c.719dup , LRG_844t1:c.719dup	NP_037514.2:p.Leu240PhefsTer?
XM_011536675.1:c.719dup	XP_011534977.1:p.Leu240PhefsTer?
XM_011536676.1:c.386dup	XP_011534978.1:p.Leu129PhefsTer?
XM_011536677.1:c.547+3505dup	XP_011534979.1:n.547+3505dup
XM_011536678.1:c.719dup	XP_011534980.1:p.Leu240PhefsTer?
XM_011536679.1:c.-90-1626dup	XP_011534981.1:n.-90-1626dup
XM_011536680.1:c.719dup	XP_011534982.1:p.Leu240PhefsTer?
XR_943416.1:n.922dup
XM_011536675.2:c.719dup	XP_011534977.1:p.Leu240PhefsTer?
XM_011536676.2:c.386dup	XP_011534978.1:p.Leu129PhefsTer?
XM_011536677.3:c.547+3505dup	XP_011534979.1:n.547+3505dup
XR_001750279.1:n.919dup
XR_001750282.1:n.923dup
XR_943416.3:n.920dup
NM_013382.6:c.719dup	NP_037514.2:p.Leu240PhefsTer?
NM_013382.7:c.719dup MANE Select	NP_037514.2:p.Leu240PhefsTer?