Canonical Allele Identifier: CA487324475

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77753150C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286807C>T , CM000676.2:g.77286807C>T	GRCh38
NC_000014.8:g.77753150C>T , CM000676.1:g.77753150C>T	GRCh37
NC_000014.7:g.76822903C>T	NCBI36
NG_008897.1:g.39076G>A , LRG_844:g.39076G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.810G>A	ENSP00000451967.2:p.Leu270=
ENST00000682247.1:c.1269G>A	ENSP00000507213.1:p.Leu423=
ENST00000682382.1:c.841G>A
ENST00000682395.1:n.1447G>A
ENST00000682459.1:n.972G>A
ENST00000682467.1:c.1269G>A	ENSP00000508062.1:p.Leu423=
ENST00000682706.1:n.46G>A
ENST00000682795.1:c.1269G>A	ENSP00000507574.1:p.Leu423=
ENST00000682895.1:n.985G>A
ENST00000682955.1:n.557G>A
ENST00000683188.1:c.1244G>A
ENST00000683328.1:c.262G>A	ENSP00000508096.1:n.262G>A
ENST00000683380.1:n.933G>A
ENST00000683828.1:c.978G>A
ENST00000684259.1:n.1120G>A
ENST00000684444.1:c.16G>A
ENST00000684549.1:n.820G>A
ENST00000261534.9:c.1269G>A MANE Select	ENSP00000261534.4:p.Leu423=
ENST00000261534.8:c.1269G>A	ENSP00000261534.4:p.Leu423=
ENST00000452340.7:n.1292G>A
ENST00000553880.5:n.140G>A
ENST00000554767.5:n.2055G>A
ENST00000554884.5:n.261G>A
ENST00000556404.1:n.403G>A
ENST00000556851.1:n.305G>A
ENST00000557675.5:n.359G>A
NM_013382.5:c.1269G>A , LRG_844t1:c.1269G>A	NP_037514.2:p.Leu423=
XM_011536675.1:c.1269G>A	XP_011534977.1:p.Leu423=
XM_011536676.1:c.936G>A	XP_011534978.1:p.Leu312=
XM_011536677.1:c.810G>A	XP_011534979.1:p.Leu270=
XM_011536678.1:c.1269G>A	XP_011534980.1:p.Leu423=
XM_011536679.1:c.363G>A	XP_011534981.1:p.Leu121=
XR_943416.1:n.1472G>A
XM_011536675.2:c.1269G>A	XP_011534977.1:p.Leu423=
XM_011536676.2:c.936G>A	XP_011534978.1:p.Leu312=
XM_011536677.3:c.810G>A	XP_011534979.1:p.Leu270=
XR_001750279.1:n.1469G>A
XR_001750282.1:n.1922G>A
XR_943416.3:n.1470G>A
NM_013382.6:c.1269G>A	NP_037514.2:p.Leu423=
NM_013382.7:c.1269G>A MANE Select	NP_037514.2:p.Leu423=