Canonical Allele Identifier: CA487324482

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77753159G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286816G>A , CM000676.2:g.77286816G>A	GRCh38
NC_000014.8:g.77753159G>A , CM000676.1:g.77753159G>A	GRCh37
NC_000014.7:g.76822912G>A	NCBI36
NG_008897.1:g.39067C>T , LRG_844:g.39067C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.801C>T	ENSP00000451967.2:p.Ser267=
ENST00000682247.1:c.1260C>T	ENSP00000507213.1:p.Ser420=
ENST00000682382.1:c.832C>T
ENST00000682395.1:n.1438C>T
ENST00000682459.1:n.963C>T
ENST00000682467.1:c.1260C>T	ENSP00000508062.1:p.Ser420=
ENST00000682706.1:n.37C>T
ENST00000682795.1:c.1260C>T	ENSP00000507574.1:p.Ser420=
ENST00000682895.1:n.976C>T
ENST00000682955.1:n.548C>T
ENST00000683188.1:c.1235C>T
ENST00000683328.1:c.253C>T	ENSP00000508096.1:n.253C>T
ENST00000683380.1:n.924C>T
ENST00000683828.1:c.969C>T
ENST00000684259.1:n.1111C>T
ENST00000684444.1:c.7C>T
ENST00000684549.1:n.811C>T
ENST00000261534.9:c.1260C>T MANE Select	ENSP00000261534.4:p.Ser420=
ENST00000261534.8:c.1260C>T	ENSP00000261534.4:p.Ser420=
ENST00000452340.7:n.1283C>T
ENST00000553880.5:n.131C>T
ENST00000554767.5:n.2046C>T
ENST00000554884.5:n.252C>T
ENST00000556404.1:n.394C>T
ENST00000556851.1:n.296C>T
ENST00000557675.5:n.350C>T
NM_013382.5:c.1260C>T , LRG_844t1:c.1260C>T	NP_037514.2:p.Ser420=
XM_011536675.1:c.1260C>T	XP_011534977.1:p.Ser420=
XM_011536676.1:c.927C>T	XP_011534978.1:p.Ser309=
XM_011536677.1:c.801C>T	XP_011534979.1:p.Ser267=
XM_011536678.1:c.1260C>T	XP_011534980.1:p.Ser420=
XM_011536679.1:c.354C>T	XP_011534981.1:p.Ser118=
XR_943416.1:n.1463C>T
XM_011536675.2:c.1260C>T	XP_011534977.1:p.Ser420=
XM_011536676.2:c.927C>T	XP_011534978.1:p.Ser309=
XM_011536677.3:c.801C>T	XP_011534979.1:p.Ser267=
XR_001750279.1:n.1460C>T
XR_001750282.1:n.1913C>T
XR_943416.3:n.1461C>T
NM_013382.6:c.1260C>T	NP_037514.2:p.Ser420=
NM_013382.7:c.1260C>T MANE Select	NP_037514.2:p.Ser420=