Canonical Allele Identifier: CA390520941

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77772695G>C (hg19) ; chr14:g.77306352G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77306352G>C , CM000676.2:g.77306352G>C	GRCh38
NC_000014.8:g.77772695G>C , CM000676.1:g.77772695G>C	GRCh37
NC_000014.7:g.76842448G>C	NCBI36
NG_008897.1:g.19531C>G , LRG_844:g.19531C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000555675.6:n.152C>G
ENST00000556394.2:c.249-1552C>G	ENSP00000451967.2:n.249-1552C>G
ENST00000556880.6:n.356C>G
ENST00000682247.1:c.423C>G	ENSP00000507213.1:p.Tyr141Ter
ENST00000682382.1:c.371C>G
ENST00000682395.1:n.152C>G
ENST00000682459.1:n.102+50C>G
ENST00000682467.1:c.423C>G	ENSP00000508062.1:p.Tyr141Ter
ENST00000682795.1:c.423C>G	ENSP00000507574.1:p.Tyr141Ter
ENST00000682895.1:n.139C>G
ENST00000682955.1:n.102+50C>G
ENST00000683188.1:c.218C>G
ENST00000683380.1:n.102+50C>G
ENST00000683828.1:c.292C>G
ENST00000684066.1:n.118C>G
ENST00000684102.1:n.169C>G
ENST00000684259.1:n.274C>G
ENST00000684479.1:n.90C>G
ENST00000684549.1:n.152C>G
ENST00000684600.1:c.237C>G
ENST00000684670.1:n.90C>G
ENST00000684746.1:n.120C>G
ENST00000261534.9:c.423C>G MANE Select	ENSP00000261534.4:p.Tyr141Ter
ENST00000261534.8:c.423C>G	ENSP00000261534.4:p.Tyr141Ter
ENST00000452340.7:n.446C>G
ENST00000553863.5:n.102+50C>G
ENST00000554948.1:c.150C>G	ENSP00000452060.1:p.Tyr50Ter
ENST00000555675.5:n.139C>G
ENST00000555788.5:n.257C>G
ENST00000556326.5:c.*89C>G	ENSP00000450630.1:n.*89C>G
ENST00000556880.5:n.356C>G
ENST00000557525.1:n.513C>G
NM_013382.5:c.423C>G , LRG_844t1:c.423C>G	NP_037514.2:p.Tyr141Ter
XM_011536675.1:c.423C>G	XP_011534977.1:p.Tyr141Ter
XM_011536676.1:c.90C>G	XP_011534978.1:p.Tyr30Ter
XM_011536677.1:c.423C>G	XP_011534979.1:p.Tyr141Ter
XM_011536678.1:c.423C>G	XP_011534980.1:p.Tyr141Ter
XM_011536680.1:c.423C>G	XP_011534982.1:p.Tyr141Ter
XR_943416.1:n.626C>G
XM_011536675.2:c.423C>G	XP_011534977.1:p.Tyr141Ter
XM_011536676.2:c.90C>G	XP_011534978.1:p.Tyr30Ter
XM_011536677.3:c.423C>G	XP_011534979.1:p.Tyr141Ter
XR_001750279.1:n.623C>G
XR_001750282.1:n.627C>G
XR_943416.3:n.624C>G
NM_013382.6:c.423C>G	NP_037514.2:p.Tyr141Ter
NM_013382.7:c.423C>G MANE Select	NP_037514.2:p.Tyr141Ter