Canonical Allele Identifier: CA390517698

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77753119G>C (hg19) ; chr14:g.77286776G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286776G>C , CM000676.2:g.77286776G>C	GRCh38
NC_000014.8:g.77753119G>C , CM000676.1:g.77753119G>C	GRCh37
NC_000014.7:g.76822872G>C	NCBI36
NG_008897.1:g.39107C>G , LRG_844:g.39107C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.841C>G	ENSP00000451967.2:p.Arg281Gly
ENST00000682247.1:c.1300C>G	ENSP00000507213.1:p.Arg434Gly
ENST00000682382.1:c.872C>G
ENST00000682395.1:n.1478C>G
ENST00000682459.1:n.1003C>G
ENST00000682467.1:c.1300C>G	ENSP00000508062.1:p.Arg434Gly
ENST00000682706.1:n.77C>G
ENST00000682795.1:c.1300C>G	ENSP00000507574.1:p.Arg434Gly
ENST00000682895.1:n.1016C>G
ENST00000682955.1:n.588C>G
ENST00000683188.1:c.1275C>G
ENST00000683328.1:c.293C>G	ENSP00000508096.1:n.293C>G
ENST00000683380.1:n.964C>G
ENST00000683828.1:c.1009C>G
ENST00000684259.1:n.1151C>G
ENST00000684444.1:c.47C>G
ENST00000684549.1:n.851C>G
ENST00000261534.9:c.1300C>G MANE Select	ENSP00000261534.4:p.Arg434Gly
ENST00000261534.8:c.1300C>G	ENSP00000261534.4:p.Arg434Gly
ENST00000452340.7:n.1323C>G
ENST00000553880.5:n.171C>G
ENST00000554767.5:n.2086C>G
ENST00000554884.5:n.292C>G
ENST00000556404.1:n.434C>G
ENST00000556851.1:n.336C>G
ENST00000557675.5:n.390C>G
NM_013382.5:c.1300C>G , LRG_844t1:c.1300C>G	NP_037514.2:p.Arg434Gly
XM_011536675.1:c.1300C>G	XP_011534977.1:p.Arg434Gly
XM_011536676.1:c.967C>G	XP_011534978.1:p.Arg323Gly
XM_011536677.1:c.841C>G	XP_011534979.1:p.Arg281Gly
XM_011536678.1:c.1300C>G	XP_011534980.1:p.Arg434Gly
XM_011536679.1:c.394C>G	XP_011534981.1:p.Arg132Gly
XR_943416.1:n.1503C>G
XM_011536675.2:c.1300C>G	XP_011534977.1:p.Arg434Gly
XM_011536676.2:c.967C>G	XP_011534978.1:p.Arg323Gly
XM_011536677.3:c.841C>G	XP_011534979.1:p.Arg281Gly
XR_001750279.1:n.1500C>G
XR_001750282.1:n.1953C>G
XR_943416.3:n.1501C>G
NM_013382.6:c.1300C>G	NP_037514.2:p.Arg434Gly
NM_013382.7:c.1300C>G MANE Select	NP_037514.2:p.Arg434Gly