Canonical Allele Identifier: CA390513975

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745139G>T (hg19) ; chr14:g.77278796G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.890C>A
ENST00000556394.2:c.1506C>A	ENSP00000451967.2:p.Phe502Leu
ENST00000682128.1:c.266C>A	ENSP00000506976.1:n.266C>A
ENST00000682247.1:c.1954C>A	ENSP00000507213.1:p.Pro652Thr
ENST00000682395.1:n.2429C>A
ENST00000682459.1:n.1668C>A
ENST00000682467.1:c.1892-288C>A	ENSP00000508062.1:n.1892-288C>A
ENST00000682615.1:n.319C>A
ENST00000682795.1:c.2112C>A	ENSP00000507574.1:p.Phe704Leu
ENST00000682895.1:n.1681C>A
ENST00000682955.1:n.1539C>A
ENST00000683095.1:c.371C>A	ENSP00000508040.1:n.371C>A
ENST00000683188.1:c.2226C>A
ENST00000683380.1:n.1629C>A
ENST00000683828.1:c.1674C>A
ENST00000683907.1:c.230C>A	ENSP00000507754.1:p.Ser77Tyr
ENST00000684172.1:c.341C>A	ENSP00000508391.1:n.341C>A
ENST00000684259.1:n.3732C>A
ENST00000684538.1:n.1344C>A
ENST00000684549.1:n.1516C>A
ENST00000261534.9:c.1965C>A MANE Select	ENSP00000261534.4:p.Phe655Leu
ENST00000261534.8:c.1965C>A	ENSP00000261534.4:p.Phe655Leu
ENST00000452340.7:n.2941C>A
ENST00000554767.5:n.2751C>A
ENST00000555710.1:c.326C>A	ENSP00000451730.1:n.326C>A
ENST00000556171.1:c.557C>A
ENST00000556394.1:c.88-288C>A
ENST00000556446.1:n.266C>A
ENST00000602717.5:c.180C>A	ENSP00000487704.1:p.Phe60Leu
NM_013382.5:c.1965C>A , LRG_844t1:c.1965C>A	NP_037514.2:p.Phe655Leu
XM_011536675.1:c.2154C>A	XP_011534977.1:p.Phe718Leu
XM_011536676.1:c.1821C>A	XP_011534978.1:p.Phe607Leu
XM_011536677.1:c.1695C>A	XP_011534979.1:p.Phe565Leu
XM_011536679.1:c.1248C>A	XP_011534981.1:p.Phe416Leu
XR_943416.1:n.2218C>A
XM_011536675.2:c.2154C>A	XP_011534977.1:p.Phe718Leu
XM_011536676.2:c.1821C>A	XP_011534978.1:p.Phe607Leu
XM_011536677.3:c.1695C>A	XP_011534979.1:p.Phe565Leu
XR_001750279.1:n.2251C>A
XR_001750282.1:n.2904C>A
XR_943416.3:n.2216C>A
NM_013382.6:c.1965C>A	NP_037514.2:p.Phe655Leu
NM_013382.7:c.1965C>A MANE Select	NP_037514.2:p.Phe655Leu