Canonical Allele Identifier: CA390513761

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745089A>C (hg19) ; chr14:g.77278746A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278746A>C , CM000676.2:g.77278746A>C	GRCh38
NC_000014.8:g.77745089A>C , CM000676.1:g.77745089A>C	GRCh37
NC_000014.7:g.76814842A>C	NCBI36
NG_008897.1:g.47137T>G , LRG_844:g.47137T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.940T>G
ENST00000556394.2:c.1556T>G	ENSP00000451967.2:p.Phe519Cys
ENST00000682128.1:c.316T>G	ENSP00000506976.1:n.316T>G
ENST00000682247.1:c.2004T>G	ENSP00000507213.1:p.Leu668=
ENST00000682395.1:n.2479T>G
ENST00000682459.1:n.1718T>G
ENST00000682467.1:c.1892-238T>G	ENSP00000508062.1:n.1892-238T>G
ENST00000682615.1:n.369T>G
ENST00000682795.1:c.2162T>G	ENSP00000507574.1:p.Phe721Cys
ENST00000682895.1:n.1731T>G
ENST00000682955.1:n.1589T>G
ENST00000683095.1:c.421T>G	ENSP00000508040.1:n.421T>G
ENST00000683188.1:c.2276T>G
ENST00000683380.1:n.1679T>G
ENST00000683907.1:c.280T>G	ENSP00000507754.1:n.280T>G
ENST00000684172.1:c.391T>G	ENSP00000508391.1:n.391T>G
ENST00000684259.1:n.3782T>G
ENST00000684538.1:n.1394T>G
ENST00000684549.1:n.1566T>G
ENST00000261534.9:c.2015T>G MANE Select	ENSP00000261534.4:p.Phe672Cys
ENST00000261534.8:c.2015T>G	ENSP00000261534.4:p.Phe672Cys
ENST00000452340.7:n.2991T>G
ENST00000554767.5:n.2801T>G
ENST00000555710.1:c.376T>G	ENSP00000451730.1:n.376T>G
ENST00000556394.1:c.88-238T>G
ENST00000556446.1:n.316T>G
ENST00000602717.5:c.230T>G	ENSP00000487704.1:p.Phe77Cys
NM_013382.5:c.2015T>G , LRG_844t1:c.2015T>G	NP_037514.2:p.Phe672Cys
XM_011536675.1:c.2204T>G	XP_011534977.1:p.Phe735Cys
XM_011536676.1:c.1871T>G	XP_011534978.1:p.Phe624Cys
XM_011536677.1:c.1745T>G	XP_011534979.1:p.Phe582Cys
XM_011536679.1:c.1298T>G	XP_011534981.1:p.Phe433Cys
XR_943416.1:n.2268T>G
XM_011536675.2:c.2204T>G	XP_011534977.1:p.Phe735Cys
XM_011536676.2:c.1871T>G	XP_011534978.1:p.Phe624Cys
XM_011536677.3:c.1745T>G	XP_011534979.1:p.Phe582Cys
XR_001750279.1:n.2301T>G
XR_001750282.1:n.2954T>G
XR_943416.3:n.2266T>G
NM_013382.6:c.2015T>G	NP_037514.2:p.Phe672Cys
NM_013382.7:c.2015T>G MANE Select	NP_037514.2:p.Phe672Cys