Canonical Allele Identifier: CA390520402

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77767590G>C (hg19) ; chr14:g.77301247G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77301247G>C , CM000676.2:g.77301247G>C	GRCh38
NC_000014.8:g.77767590G>C , CM000676.1:g.77767590G>C	GRCh37
NC_000014.7:g.76837343G>C	NCBI36
NG_008897.1:g.24636C>G , LRG_844:g.24636C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553863.6:c.112C>G	ENSP00000508202.1:p.Pro38Ala
ENST00000556394.2:c.358-1686C>G	ENSP00000451967.2:n.358-1686C>G
ENST00000556880.6:n.683C>G
ENST00000557289.2:c.3C>G
ENST00000682247.1:c.659C>G	ENSP00000507213.1:p.Pro220Arg
ENST00000682382.1:c.496-2476C>G
ENST00000682395.1:n.388C>G
ENST00000682459.1:n.323C>G
ENST00000682467.1:c.659C>G	ENSP00000508062.1:p.Pro220Arg
ENST00000682795.1:c.659C>G	ENSP00000507574.1:p.Pro220Arg
ENST00000682895.1:n.375C>G
ENST00000682955.1:n.212-2476C>G
ENST00000683167.1:c.3C>G
ENST00000683188.1:c.343-1686C>G
ENST00000683300.1:c.109+3445C>G	ENSP00000507630.1:n.109+3445C>G
ENST00000683328.1:c.109+3445C>G	ENSP00000508096.1:n.109+3445C>G
ENST00000683380.1:n.323C>G
ENST00000683398.1:c.3C>G
ENST00000683551.1:c.109+1588C>G
ENST00000683828.1:c.525+1588C>G
ENST00000684259.1:n.510C>G
ENST00000684549.1:n.368-1686C>G
ENST00000684554.1:c.3C>G
ENST00000261534.9:c.659C>G MANE Select	ENSP00000261534.4:p.Pro220Arg
ENST00000261534.8:c.659C>G	ENSP00000261534.4:p.Pro220Arg
ENST00000452340.7:n.682C>G
ENST00000553863.5:n.323C>G
ENST00000554948.1:c.386C>G	ENSP00000452060.1:p.Pro129Arg
ENST00000555675.5:n.375C>G
ENST00000556326.5:c.*325C>G	ENSP00000450630.1:n.*325C>G
ENST00000557289.1:c.56-1686C>G	ENSP00000451115.1:n.56-1686C>G
NM_013382.5:c.659C>G , LRG_844t1:c.659C>G	NP_037514.2:p.Pro220Arg
XM_011536675.1:c.659C>G	XP_011534977.1:p.Pro220Arg
XM_011536676.1:c.326C>G	XP_011534978.1:p.Pro109Arg
XM_011536677.1:c.547+3445C>G	XP_011534979.1:n.547+3445C>G
XM_011536678.1:c.659C>G	XP_011534980.1:p.Pro220Arg
XM_011536679.1:c.-90-1686C>G	XP_011534981.1:n.-90-1686C>G
XM_011536680.1:c.659C>G	XP_011534982.1:p.Pro220Arg
XR_943416.1:n.862C>G
XM_011536675.2:c.659C>G	XP_011534977.1:p.Pro220Arg
XM_011536676.2:c.326C>G	XP_011534978.1:p.Pro109Arg
XM_011536677.3:c.547+3445C>G	XP_011534979.1:n.547+3445C>G
XR_001750279.1:n.859C>G
XR_001750282.1:n.863C>G
XR_943416.3:n.860C>G
NM_013382.6:c.659C>G	NP_037514.2:p.Pro220Arg
NM_013382.7:c.659C>G MANE Select	NP_037514.2:p.Pro220Arg