Canonical Allele Identifier: CA263837442

Gene: POMT2

Linked Data

• dbSNP Id: rs772579150
• gnomAD v4: 14-77301180-G-C
• MyVariant Identifiers: chr14:g.77767523G>C (hg19) ; chr14:g.77301180G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77301180G>C , CM000676.2:g.77301180G>C	GRCh38
NC_000014.8:g.77767523G>C , CM000676.1:g.77767523G>C	GRCh37
NC_000014.7:g.76837276G>C	NCBI36
NG_008897.1:g.24703C>G , LRG_844:g.24703C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553863.6:c.179C>G	ENSP00000508202.1:n.179C>G
ENST00000556394.2:c.358-1619C>G	ENSP00000451967.2:n.358-1619C>G
ENST00000556880.6:n.750C>G
ENST00000557289.2:c.70C>G
ENST00000682247.1:c.726C>G	ENSP00000507213.1:p.Val242=
ENST00000682382.1:c.496-2409C>G
ENST00000682395.1:n.455C>G
ENST00000682459.1:n.390C>G
ENST00000682467.1:c.726C>G	ENSP00000508062.1:p.Val242=
ENST00000682795.1:c.726C>G	ENSP00000507574.1:p.Val242=
ENST00000682895.1:n.442C>G
ENST00000682955.1:n.212-2409C>G
ENST00000683167.1:c.70C>G
ENST00000683188.1:c.343-1619C>G
ENST00000683300.1:c.109+3512C>G	ENSP00000507630.1:n.109+3512C>G
ENST00000683328.1:c.109+3512C>G	ENSP00000508096.1:n.109+3512C>G
ENST00000683380.1:n.390C>G
ENST00000683398.1:c.70C>G
ENST00000683551.1:c.109+1655C>G
ENST00000683828.1:c.526-1619C>G
ENST00000684259.1:n.577C>G
ENST00000684549.1:n.368-1619C>G
ENST00000684554.1:c.70C>G
ENST00000261534.9:c.726C>G MANE Select	ENSP00000261534.4:p.Val242=
ENST00000261534.8:c.726C>G	ENSP00000261534.4:p.Val242=
ENST00000452340.7:n.749C>G
ENST00000553863.5:n.390C>G
ENST00000555675.5:n.442C>G
ENST00000556326.5:c.*392C>G	ENSP00000450630.1:n.*392C>G
ENST00000557289.1:c.56-1619C>G	ENSP00000451115.1:n.56-1619C>G
NM_013382.5:c.726C>G , LRG_844t1:c.726C>G	NP_037514.2:p.Val242=
XM_011536675.1:c.726C>G	XP_011534977.1:p.Val242=
XM_011536676.1:c.393C>G	XP_011534978.1:p.Val131=
XM_011536677.1:c.547+3512C>G	XP_011534979.1:n.547+3512C>G
XM_011536678.1:c.726C>G	XP_011534980.1:p.Val242=
XM_011536679.1:c.-90-1619C>G	XP_011534981.1:n.-90-1619C>G
XM_011536680.1:c.726C>G	XP_011534982.1:p.Val242=
XR_943416.1:n.929C>G
XM_011536675.2:c.726C>G	XP_011534977.1:p.Val242=
XM_011536676.2:c.393C>G	XP_011534978.1:p.Val131=
XM_011536677.3:c.547+3512C>G	XP_011534979.1:n.547+3512C>G
XR_001750279.1:n.926C>G
XR_001750282.1:n.930C>G
XR_943416.3:n.927C>G
NM_013382.6:c.726C>G	NP_037514.2:p.Val242=
NM_013382.7:c.726C>G MANE Select	NP_037514.2:p.Val242=