Canonical Allele Identifier: CA390513888

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745116A>C (hg19) ; chr14:g.77278773A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278773A>C , CM000676.2:g.77278773A>C	GRCh38
NC_000014.8:g.77745116A>C , CM000676.1:g.77745116A>C	GRCh37
NC_000014.7:g.76814869A>C	NCBI36
NG_008897.1:g.47110T>G , LRG_844:g.47110T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.913T>G
ENST00000556394.2:c.1529T>G	ENSP00000451967.2:p.Phe510Cys
ENST00000682128.1:c.289T>G	ENSP00000506976.1:n.289T>G
ENST00000682247.1:c.1977T>G	ENSP00000507213.1:p.Leu659=
ENST00000682395.1:n.2452T>G
ENST00000682459.1:n.1691T>G
ENST00000682467.1:c.1892-265T>G	ENSP00000508062.1:n.1892-265T>G
ENST00000682615.1:n.342T>G
ENST00000682795.1:c.2135T>G	ENSP00000507574.1:p.Phe712Cys
ENST00000682895.1:n.1704T>G
ENST00000682955.1:n.1562T>G
ENST00000683095.1:c.394T>G	ENSP00000508040.1:n.394T>G
ENST00000683188.1:c.2249T>G
ENST00000683380.1:n.1652T>G
ENST00000683907.1:c.253T>G	ENSP00000507754.1:n.253T>G
ENST00000684172.1:c.364T>G	ENSP00000508391.1:n.364T>G
ENST00000684259.1:n.3755T>G
ENST00000684538.1:n.1367T>G
ENST00000684549.1:n.1539T>G
ENST00000261534.9:c.1988T>G MANE Select	ENSP00000261534.4:p.Phe663Cys
ENST00000261534.8:c.1988T>G	ENSP00000261534.4:p.Phe663Cys
ENST00000452340.7:n.2964T>G
ENST00000554767.5:n.2774T>G
ENST00000555710.1:c.349T>G	ENSP00000451730.1:n.349T>G
ENST00000556171.1:c.580T>G
ENST00000556394.1:c.88-265T>G
ENST00000556446.1:n.289T>G
ENST00000602717.5:c.203T>G	ENSP00000487704.1:p.Phe68Cys
NM_013382.5:c.1988T>G , LRG_844t1:c.1988T>G	NP_037514.2:p.Phe663Cys
XM_011536675.1:c.2177T>G	XP_011534977.1:p.Phe726Cys
XM_011536676.1:c.1844T>G	XP_011534978.1:p.Phe615Cys
XM_011536677.1:c.1718T>G	XP_011534979.1:p.Phe573Cys
XM_011536679.1:c.1271T>G	XP_011534981.1:p.Phe424Cys
XR_943416.1:n.2241T>G
XM_011536675.2:c.2177T>G	XP_011534977.1:p.Phe726Cys
XM_011536676.2:c.1844T>G	XP_011534978.1:p.Phe615Cys
XM_011536677.3:c.1718T>G	XP_011534979.1:p.Phe573Cys
XR_001750279.1:n.2274T>G
XR_001750282.1:n.2927T>G
XR_943416.3:n.2239T>G
NM_013382.6:c.1988T>G	NP_037514.2:p.Phe663Cys
NM_013382.7:c.1988T>G MANE Select	NP_037514.2:p.Phe663Cys