Canonical Allele Identifier: CA263817430

Gene: POMT2

Linked Data

• dbSNP Id: rs372939905
• MyVariant Identifiers: chr14:g.77745129G>C (hg19) ; chr14:g.77278786G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278786G>C , CM000676.2:g.77278786G>C	GRCh38
NC_000014.8:g.77745129G>C , CM000676.1:g.77745129G>C	GRCh37
NC_000014.7:g.76814882G>C	NCBI36
NG_008897.1:g.47097C>G , LRG_844:g.47097C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.900C>G
ENST00000556394.2:c.1516C>G	ENSP00000451967.2:p.Arg506Gly
ENST00000682128.1:c.276C>G	ENSP00000506976.1:n.276C>G
ENST00000682247.1:c.1964C>G	ENSP00000507213.1:p.Pro655Arg
ENST00000682395.1:n.2439C>G
ENST00000682459.1:n.1678C>G
ENST00000682467.1:c.1892-278C>G	ENSP00000508062.1:n.1892-278C>G
ENST00000682615.1:n.329C>G
ENST00000682795.1:c.2122C>G	ENSP00000507574.1:p.Arg708Gly
ENST00000682895.1:n.1691C>G
ENST00000682955.1:n.1549C>G
ENST00000683095.1:c.381C>G	ENSP00000508040.1:n.381C>G
ENST00000683188.1:c.2236C>G
ENST00000683380.1:n.1639C>G
ENST00000683828.1:c.1684C>G
ENST00000683907.1:c.240C>G	ENSP00000507754.1:n.240C>G
ENST00000684172.1:c.351C>G	ENSP00000508391.1:n.351C>G
ENST00000684259.1:n.3742C>G
ENST00000684538.1:n.1354C>G
ENST00000684549.1:n.1526C>G
ENST00000261534.9:c.1975C>G MANE Select	ENSP00000261534.4:p.Arg659Gly
ENST00000261534.8:c.1975C>G	ENSP00000261534.4:p.Arg659Gly
ENST00000452340.7:n.2951C>G
ENST00000554767.5:n.2761C>G
ENST00000555710.1:c.336C>G	ENSP00000451730.1:n.336C>G
ENST00000556171.1:c.567C>G
ENST00000556394.1:c.88-278C>G
ENST00000556446.1:n.276C>G
ENST00000602717.5:c.190C>G	ENSP00000487704.1:p.Arg64Gly
NM_013382.5:c.1975C>G , LRG_844t1:c.1975C>G	NP_037514.2:p.Arg659Gly
XM_011536675.1:c.2164C>G	XP_011534977.1:p.Arg722Gly
XM_011536676.1:c.1831C>G	XP_011534978.1:p.Arg611Gly
XM_011536677.1:c.1705C>G	XP_011534979.1:p.Arg569Gly
XM_011536679.1:c.1258C>G	XP_011534981.1:p.Arg420Gly
XR_943416.1:n.2228C>G
XM_011536675.2:c.2164C>G	XP_011534977.1:p.Arg722Gly
XM_011536676.2:c.1831C>G	XP_011534978.1:p.Arg611Gly
XM_011536677.3:c.1705C>G	XP_011534979.1:p.Arg569Gly
XR_001750279.1:n.2261C>G
XR_001750282.1:n.2914C>G
XR_943416.3:n.2226C>G
NM_013382.6:c.1975C>G	NP_037514.2:p.Arg659Gly
NM_013382.7:c.1975C>G MANE Select	NP_037514.2:p.Arg659Gly