Canonical Allele Identifier: CA487509538

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745193A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278850A>T , CM000676.2:g.77278850A>T	GRCh38
NC_000014.8:g.77745193A>T , CM000676.1:g.77745193A>T	GRCh37
NC_000014.7:g.76814946A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.836T>A
ENST00000556394.2:c.1452T>A	ENSP00000451967.2:p.Leu484=
ENST00000682128.1:c.212T>A	ENSP00000506976.1:n.212T>A
ENST00000682247.1:c.1900T>A	ENSP00000507213.1:p.Ser634Thr
ENST00000682395.1:n.2375T>A
ENST00000682459.1:n.1614T>A
ENST00000682467.1:c.1892-342T>A	ENSP00000508062.1:n.1892-342T>A
ENST00000682615.1:n.265T>A
ENST00000682795.1:c.2058T>A	ENSP00000507574.1:p.Leu686=
ENST00000682895.1:n.1627T>A
ENST00000682955.1:n.1485T>A
ENST00000683095.1:c.317T>A	ENSP00000508040.1:n.317T>A
ENST00000683188.1:c.2172T>A
ENST00000683380.1:n.1575T>A
ENST00000683828.1:c.1620T>A
ENST00000683907.1:c.176T>A	ENSP00000507754.1:p.Phe59Tyr
ENST00000684172.1:c.287T>A	ENSP00000508391.1:n.287T>A
ENST00000684259.1:n.3678T>A
ENST00000684538.1:n.1290T>A
ENST00000684549.1:n.1462T>A
ENST00000261534.9:c.1911T>A MANE Select	ENSP00000261534.4:p.Leu637=
ENST00000261534.8:c.1911T>A	ENSP00000261534.4:p.Leu637=
ENST00000452340.7:n.2887T>A
ENST00000554767.5:n.2697T>A
ENST00000555134.1:n.836T>A
ENST00000555710.1:c.272T>A	ENSP00000451730.1:n.272T>A
ENST00000556171.1:c.503T>A
ENST00000556394.1:c.88-342T>A
ENST00000556446.1:n.212T>A
ENST00000602717.5:c.126T>A	ENSP00000487704.1:p.Leu42=
XM_011536675.1:c.2100T>A	XP_011534977.1:p.Leu700=
XM_011536676.1:c.1767T>A	XP_011534978.1:p.Leu589=
XM_011536677.1:c.1641T>A	XP_011534979.1:p.Leu547=
XM_011536679.1:c.1194T>A	XP_011534981.1:p.Leu398=
XR_943416.1:n.2164T>A
XM_011536675.2:c.2100T>A	XP_011534977.1:p.Leu700=
XM_011536676.2:c.1767T>A	XP_011534978.1:p.Leu589=
XM_011536677.3:c.1641T>A	XP_011534979.1:p.Leu547=
XR_001750279.1:n.2197T>A
XR_001750282.1:n.2850T>A
XR_943416.3:n.2162T>A
NM_013382.6:c.1911T>A	NP_037514.2:p.Leu637=
NM_013382.7:c.1911T>A MANE Select	NP_037514.2:p.Leu637=