Canonical Allele Identifier: CA487509398

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745139G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278796G>A , CM000676.2:g.77278796G>A	GRCh38
NC_000014.8:g.77745139G>A , CM000676.1:g.77745139G>A	GRCh37
NC_000014.7:g.76814892G>A	NCBI36
NG_008897.1:g.47087C>T , LRG_844:g.47087C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.890C>T
ENST00000556394.2:c.1506C>T	ENSP00000451967.2:p.Phe502=
ENST00000682128.1:c.266C>T	ENSP00000506976.1:n.266C>T
ENST00000682247.1:c.1954C>T	ENSP00000507213.1:p.Pro652Ser
ENST00000682395.1:n.2429C>T
ENST00000682459.1:n.1668C>T
ENST00000682467.1:c.1892-288C>T	ENSP00000508062.1:n.1892-288C>T
ENST00000682615.1:n.319C>T
ENST00000682795.1:c.2112C>T	ENSP00000507574.1:p.Phe704=
ENST00000682895.1:n.1681C>T
ENST00000682955.1:n.1539C>T
ENST00000683095.1:c.371C>T	ENSP00000508040.1:n.371C>T
ENST00000683188.1:c.2226C>T
ENST00000683380.1:n.1629C>T
ENST00000683828.1:c.1674C>T
ENST00000683907.1:c.230C>T	ENSP00000507754.1:p.Ser77Phe
ENST00000684172.1:c.341C>T	ENSP00000508391.1:n.341C>T
ENST00000684259.1:n.3732C>T
ENST00000684538.1:n.1344C>T
ENST00000684549.1:n.1516C>T
ENST00000261534.9:c.1965C>T MANE Select	ENSP00000261534.4:p.Phe655=
ENST00000261534.8:c.1965C>T	ENSP00000261534.4:p.Phe655=
ENST00000452340.7:n.2941C>T
ENST00000554767.5:n.2751C>T
ENST00000555710.1:c.326C>T	ENSP00000451730.1:n.326C>T
ENST00000556171.1:c.557C>T
ENST00000556394.1:c.88-288C>T
ENST00000556446.1:n.266C>T
ENST00000602717.5:c.180C>T	ENSP00000487704.1:p.Phe60=
NM_013382.5:c.1965C>T , LRG_844t1:c.1965C>T	NP_037514.2:p.Phe655=
XM_011536675.1:c.2154C>T	XP_011534977.1:p.Phe718=
XM_011536676.1:c.1821C>T	XP_011534978.1:p.Phe607=
XM_011536677.1:c.1695C>T	XP_011534979.1:p.Phe565=
XM_011536679.1:c.1248C>T	XP_011534981.1:p.Phe416=
XR_943416.1:n.2218C>T
XM_011536675.2:c.2154C>T	XP_011534977.1:p.Phe718=
XM_011536676.2:c.1821C>T	XP_011534978.1:p.Phe607=
XM_011536677.3:c.1695C>T	XP_011534979.1:p.Phe565=
XR_001750279.1:n.2251C>T
XR_001750282.1:n.2904C>T
XR_943416.3:n.2216C>T
NM_013382.6:c.1965C>T	NP_037514.2:p.Phe655=
NM_013382.7:c.1965C>T MANE Select	NP_037514.2:p.Phe655=