Canonical Allele Identifier: CA390513894

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745117A>C (hg19) ; chr14:g.77278774A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278774A>C , CM000676.2:g.77278774A>C	GRCh38
NC_000014.8:g.77745117A>C , CM000676.1:g.77745117A>C	GRCh37
NC_000014.7:g.76814870A>C	NCBI36
NG_008897.1:g.47109T>G , LRG_844:g.47109T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.912T>G
ENST00000556394.2:c.1528T>G	ENSP00000451967.2:p.Phe510Val
ENST00000682128.1:c.288T>G	ENSP00000506976.1:n.288T>G
ENST00000682247.1:c.1976T>G	ENSP00000507213.1:p.Leu659Arg
ENST00000682395.1:n.2451T>G
ENST00000682459.1:n.1690T>G
ENST00000682467.1:c.1892-266T>G	ENSP00000508062.1:n.1892-266T>G
ENST00000682615.1:n.341T>G
ENST00000682795.1:c.2134T>G	ENSP00000507574.1:p.Phe712Val
ENST00000682895.1:n.1703T>G
ENST00000682955.1:n.1561T>G
ENST00000683095.1:c.393T>G	ENSP00000508040.1:n.393T>G
ENST00000683188.1:c.2248T>G
ENST00000683380.1:n.1651T>G
ENST00000683907.1:c.252T>G	ENSP00000507754.1:n.252T>G
ENST00000684172.1:c.363T>G	ENSP00000508391.1:n.363T>G
ENST00000684259.1:n.3754T>G
ENST00000684538.1:n.1366T>G
ENST00000684549.1:n.1538T>G
ENST00000261534.9:c.1987T>G MANE Select	ENSP00000261534.4:p.Phe663Val
ENST00000261534.8:c.1987T>G	ENSP00000261534.4:p.Phe663Val
ENST00000452340.7:n.2963T>G
ENST00000554767.5:n.2773T>G
ENST00000555710.1:c.348T>G	ENSP00000451730.1:n.348T>G
ENST00000556171.1:c.579T>G
ENST00000556394.1:c.88-266T>G
ENST00000556446.1:n.288T>G
ENST00000602717.5:c.202T>G	ENSP00000487704.1:p.Phe68Val
NM_013382.5:c.1987T>G , LRG_844t1:c.1987T>G	NP_037514.2:p.Phe663Val
XM_011536675.1:c.2176T>G	XP_011534977.1:p.Phe726Val
XM_011536676.1:c.1843T>G	XP_011534978.1:p.Phe615Val
XM_011536677.1:c.1717T>G	XP_011534979.1:p.Phe573Val
XM_011536679.1:c.1270T>G	XP_011534981.1:p.Phe424Val
XR_943416.1:n.2240T>G
XM_011536675.2:c.2176T>G	XP_011534977.1:p.Phe726Val
XM_011536676.2:c.1843T>G	XP_011534978.1:p.Phe615Val
XM_011536677.3:c.1717T>G	XP_011534979.1:p.Phe573Val
XR_001750279.1:n.2273T>G
XR_001750282.1:n.2926T>G
XR_943416.3:n.2238T>G
NM_013382.6:c.1987T>G	NP_037514.2:p.Phe663Val
NM_013382.7:c.1987T>G MANE Select	NP_037514.2:p.Phe663Val