Canonical Allele Identifier: CA390513941

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745131C>A (hg19) ; chr14:g.77278788C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278788C>A , CM000676.2:g.77278788C>A	GRCh38
NC_000014.8:g.77745131C>A , CM000676.1:g.77745131C>A	GRCh37
NC_000014.7:g.76814884C>A	NCBI36
NG_008897.1:g.47095G>T , LRG_844:g.47095G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.898G>T
ENST00000556394.2:c.1514G>T	ENSP00000451967.2:p.Gly505Val
ENST00000682128.1:c.274G>T	ENSP00000506976.1:n.274G>T
ENST00000682247.1:c.1962G>T	ENSP00000507213.1:p.Gly654=
ENST00000682395.1:n.2437G>T
ENST00000682459.1:n.1676G>T
ENST00000682467.1:c.1892-280G>T	ENSP00000508062.1:n.1892-280G>T
ENST00000682615.1:n.327G>T
ENST00000682795.1:c.2120G>T	ENSP00000507574.1:p.Gly707Val
ENST00000682895.1:n.1689G>T
ENST00000682955.1:n.1547G>T
ENST00000683095.1:c.379G>T	ENSP00000508040.1:n.379G>T
ENST00000683188.1:c.2234G>T
ENST00000683380.1:n.1637G>T
ENST00000683828.1:c.1682G>T
ENST00000683907.1:c.238G>T	ENSP00000507754.1:n.238G>T
ENST00000684172.1:c.349G>T	ENSP00000508391.1:n.349G>T
ENST00000684259.1:n.3740G>T
ENST00000684538.1:n.1352G>T
ENST00000684549.1:n.1524G>T
ENST00000261534.9:c.1973G>T MANE Select	ENSP00000261534.4:p.Gly658Val
ENST00000261534.8:c.1973G>T	ENSP00000261534.4:p.Gly658Val
ENST00000452340.7:n.2949G>T
ENST00000554767.5:n.2759G>T
ENST00000555710.1:c.334G>T	ENSP00000451730.1:n.334G>T
ENST00000556171.1:c.565G>T
ENST00000556394.1:c.88-280G>T
ENST00000556446.1:n.274G>T
ENST00000602717.5:c.188G>T	ENSP00000487704.1:p.Gly63Val
NM_013382.5:c.1973G>T , LRG_844t1:c.1973G>T	NP_037514.2:p.Gly658Val
XM_011536675.1:c.2162G>T	XP_011534977.1:p.Gly721Val
XM_011536676.1:c.1829G>T	XP_011534978.1:p.Gly610Val
XM_011536677.1:c.1703G>T	XP_011534979.1:p.Gly568Val
XM_011536679.1:c.1256G>T	XP_011534981.1:p.Gly419Val
XR_943416.1:n.2226G>T
XM_011536675.2:c.2162G>T	XP_011534977.1:p.Gly721Val
XM_011536676.2:c.1829G>T	XP_011534978.1:p.Gly610Val
XM_011536677.3:c.1703G>T	XP_011534979.1:p.Gly568Val
XR_001750279.1:n.2259G>T
XR_001750282.1:n.2912G>T
XR_943416.3:n.2224G>T
NM_013382.6:c.1973G>T	NP_037514.2:p.Gly658Val
NM_013382.7:c.1973G>T MANE Select	NP_037514.2:p.Gly658Val