Canonical Allele Identifier: CA390520081

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77767437G>T (hg19) ; chr14:g.77301094G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77301094G>T , CM000676.2:g.77301094G>T	GRCh38
NC_000014.8:g.77767437G>T , CM000676.1:g.77767437G>T	GRCh37
NC_000014.7:g.76837190G>T	NCBI36
NG_008897.1:g.24789C>A , LRG_844:g.24789C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553863.6:c.265C>A	ENSP00000508202.1:n.265C>A
ENST00000556394.2:c.358-1533C>A	ENSP00000451967.2:n.358-1533C>A
ENST00000557289.2:c.156C>A
ENST00000682247.1:c.812C>A	ENSP00000507213.1:p.Ser271Ter
ENST00000682382.1:c.496-2323C>A
ENST00000682395.1:n.541C>A
ENST00000682459.1:n.476C>A
ENST00000682467.1:c.812C>A	ENSP00000508062.1:p.Ser271Ter
ENST00000682795.1:c.812C>A	ENSP00000507574.1:p.Ser271Ter
ENST00000682895.1:n.528C>A
ENST00000682955.1:n.212-2323C>A
ENST00000683167.1:c.156C>A
ENST00000683188.1:c.343-1533C>A
ENST00000683300.1:c.109+3598C>A	ENSP00000507630.1:n.109+3598C>A
ENST00000683328.1:c.109+3598C>A	ENSP00000508096.1:n.109+3598C>A
ENST00000683380.1:n.476C>A
ENST00000683398.1:c.156C>A
ENST00000683551.1:c.109+1741C>A
ENST00000683828.1:c.526-1533C>A
ENST00000684259.1:n.663C>A
ENST00000684549.1:n.368-1533C>A
ENST00000684554.1:c.156C>A
ENST00000261534.9:c.812C>A MANE Select	ENSP00000261534.4:p.Ser271Ter
ENST00000261534.8:c.812C>A	ENSP00000261534.4:p.Ser271Ter
ENST00000452340.7:n.835C>A
ENST00000553863.5:n.476C>A
ENST00000554767.5:n.70C>A
ENST00000555675.5:n.528C>A
ENST00000556326.5:c.*478C>A	ENSP00000450630.1:n.*478C>A
ENST00000557289.1:c.56-1533C>A	ENSP00000451115.1:n.56-1533C>A
NM_013382.5:c.812C>A , LRG_844t1:c.812C>A	NP_037514.2:p.Ser271Ter
XM_011536675.1:c.812C>A	XP_011534977.1:p.Ser271Ter
XM_011536676.1:c.479C>A	XP_011534978.1:p.Ser160Ter
XM_011536677.1:c.547+3598C>A	XP_011534979.1:n.547+3598C>A
XM_011536678.1:c.812C>A	XP_011534980.1:p.Ser271Ter
XM_011536679.1:c.-90-1533C>A	XP_011534981.1:n.-90-1533C>A
XM_011536680.1:c.812C>A	XP_011534982.1:p.Ser271Ter
XR_943416.1:n.1015C>A
XM_011536675.2:c.812C>A	XP_011534977.1:p.Ser271Ter
XM_011536676.2:c.479C>A	XP_011534978.1:p.Ser160Ter
XM_011536677.3:c.547+3598C>A	XP_011534979.1:n.547+3598C>A
XR_001750279.1:n.1012C>A
XR_001750282.1:n.1016C>A
XR_943416.3:n.1013C>A
NM_013382.6:c.812C>A	NP_037514.2:p.Ser271Ter
NM_013382.7:c.812C>A MANE Select	NP_037514.2:p.Ser271Ter