Canonical Allele Identifier: CA487324448

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77753096G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286753G>C , CM000676.2:g.77286753G>C	GRCh38
NC_000014.8:g.77753096G>C , CM000676.1:g.77753096G>C	GRCh37
NC_000014.7:g.76822849G>C	NCBI36
NG_008897.1:g.39130C>G , LRG_844:g.39130C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.864C>G	ENSP00000451967.2:p.Gly288=
ENST00000682247.1:c.1323C>G	ENSP00000507213.1:p.Gly441=
ENST00000682382.1:c.895C>G
ENST00000682395.1:n.1501C>G
ENST00000682459.1:n.1026C>G
ENST00000682467.1:c.1323C>G	ENSP00000508062.1:p.Gly441=
ENST00000682706.1:n.100C>G
ENST00000682795.1:c.1323C>G	ENSP00000507574.1:p.Gly441=
ENST00000682895.1:n.1039C>G
ENST00000682955.1:n.611C>G
ENST00000683188.1:c.1298C>G
ENST00000683328.1:c.316C>G	ENSP00000508096.1:n.316C>G
ENST00000683380.1:n.987C>G
ENST00000683828.1:c.1032C>G
ENST00000684259.1:n.1174C>G
ENST00000684444.1:c.70C>G
ENST00000684549.1:n.874C>G
ENST00000261534.9:c.1323C>G MANE Select	ENSP00000261534.4:p.Gly441=
ENST00000261534.8:c.1323C>G	ENSP00000261534.4:p.Gly441=
ENST00000452340.7:n.1346C>G
ENST00000553880.5:n.194C>G
ENST00000554767.5:n.2109C>G
ENST00000554884.5:n.315C>G
ENST00000556404.1:n.457C>G
ENST00000556851.1:n.359C>G
ENST00000557675.5:n.413C>G
NM_013382.5:c.1323C>G , LRG_844t1:c.1323C>G	NP_037514.2:p.Gly441=
XM_011536675.1:c.1323C>G	XP_011534977.1:p.Gly441=
XM_011536676.1:c.990C>G	XP_011534978.1:p.Gly330=
XM_011536677.1:c.864C>G	XP_011534979.1:p.Gly288=
XM_011536678.1:c.1323C>G	XP_011534980.1:p.Gly441=
XM_011536679.1:c.417C>G	XP_011534981.1:p.Gly139=
XR_943416.1:n.1526C>G
XM_011536675.2:c.1323C>G	XP_011534977.1:p.Gly441=
XM_011536676.2:c.990C>G	XP_011534978.1:p.Gly330=
XM_011536677.3:c.864C>G	XP_011534979.1:p.Gly288=
XR_001750279.1:n.1523C>G
XR_001750282.1:n.1976C>G
XR_943416.3:n.1524C>G
NM_013382.6:c.1323C>G	NP_037514.2:p.Gly441=
NM_013382.7:c.1323C>G MANE Select	NP_037514.2:p.Gly441=