Canonical Allele Identifier: CA390519683

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77765043G>C (hg19) ; chr14:g.77298700G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77298700G>C , CM000676.2:g.77298700G>C	GRCh38
NC_000014.8:g.77765043G>C , CM000676.1:g.77765043G>C	GRCh37
NC_000014.7:g.76834796G>C	NCBI36
NG_008897.1:g.27183C>G , LRG_844:g.27183C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000556394.2:c.536C>G	ENSP00000451967.2:p.Ser179Cys
ENST00000557289.2:c.293C>G
ENST00000682247.1:c.995C>G	ENSP00000507213.1:p.Ser332Cys
ENST00000682382.1:c.567C>G
ENST00000682395.1:n.724C>G
ENST00000682459.1:n.659C>G
ENST00000682467.1:c.995C>G	ENSP00000508062.1:p.Ser332Cys
ENST00000682795.1:c.995C>G	ENSP00000507574.1:p.Ser332Cys
ENST00000682895.1:n.711C>G
ENST00000682955.1:n.283C>G
ENST00000683188.1:c.521C>G
ENST00000683300.1:c.110-2427C>G	ENSP00000507630.1:n.110-2427C>G
ENST00000683328.1:c.109+5992C>G	ENSP00000508096.1:n.109+5992C>G
ENST00000683380.1:n.659C>G
ENST00000683551.1:c.181C>G
ENST00000683828.1:c.704C>G
ENST00000684259.1:n.846C>G
ENST00000684549.1:n.546C>G
ENST00000684554.1:c.232C>G
ENST00000261534.9:c.995C>G MANE Select	ENSP00000261534.4:p.Ser332Cys
ENST00000261534.8:c.995C>G	ENSP00000261534.4:p.Ser332Cys
ENST00000452340.7:n.1018C>G
ENST00000554767.5:n.1781C>G
ENST00000557289.1:c.234C>G	ENSP00000451115.1:n.234C>G
NM_013382.5:c.995C>G , LRG_844t1:c.995C>G	NP_037514.2:p.Ser332Cys
XM_011536675.1:c.995C>G	XP_011534977.1:p.Ser332Cys
XM_011536676.1:c.662C>G	XP_011534978.1:p.Ser221Cys
XM_011536677.1:c.548-2427C>G	XP_011534979.1:n.548-2427C>G
XM_011536678.1:c.995C>G	XP_011534980.1:p.Ser332Cys
XM_011536679.1:c.89C>G	XP_011534981.1:p.Ser30Cys
XM_011536680.1:c.995C>G	XP_011534982.1:p.Ser332Cys
XR_943416.1:n.1198C>G
XM_011536675.2:c.995C>G	XP_011534977.1:p.Ser332Cys
XM_011536676.2:c.662C>G	XP_011534978.1:p.Ser221Cys
XM_011536677.3:c.548-2427C>G	XP_011534979.1:n.548-2427C>G
XR_001750279.1:n.1195C>G
XR_001750282.1:n.1199C>G
XR_943416.3:n.1196C>G
NM_013382.6:c.995C>G	NP_037514.2:p.Ser332Cys
NM_013382.7:c.995C>G MANE Select	NP_037514.2:p.Ser332Cys