Canonical Allele Identifier: CA390513822

Gene: POMT2

Linked Data

• ClinVar Variation Id: 2948025
• ClinVar RCV Id: RCV003806847
• MyVariant Identifiers: chr14:g.77745103G>C (hg19) ; chr14:g.77278760G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278760G>C , CM000676.2:g.77278760G>C	GRCh38
NC_000014.8:g.77745103G>C , CM000676.1:g.77745103G>C	GRCh37
NC_000014.7:g.76814856G>C	NCBI36
NG_008897.1:g.47123C>G , LRG_844:g.47123C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.926C>G
ENST00000556394.2:c.1542C>G	ENSP00000451967.2:p.Phe514Leu
ENST00000682128.1:c.302C>G	ENSP00000506976.1:n.302C>G
ENST00000682247.1:c.1990C>G	ENSP00000507213.1:p.Pro664Ala
ENST00000682395.1:n.2465C>G
ENST00000682459.1:n.1704C>G
ENST00000682467.1:c.1892-252C>G	ENSP00000508062.1:n.1892-252C>G
ENST00000682615.1:n.355C>G
ENST00000682795.1:c.2148C>G	ENSP00000507574.1:p.Phe716Leu
ENST00000682895.1:n.1717C>G
ENST00000682955.1:n.1575C>G
ENST00000683095.1:c.407C>G	ENSP00000508040.1:n.407C>G
ENST00000683188.1:c.2262C>G
ENST00000683380.1:n.1665C>G
ENST00000683907.1:c.266C>G	ENSP00000507754.1:n.266C>G
ENST00000684172.1:c.377C>G	ENSP00000508391.1:n.377C>G
ENST00000684259.1:n.3768C>G
ENST00000684538.1:n.1380C>G
ENST00000684549.1:n.1552C>G
ENST00000261534.9:c.2001C>G MANE Select	ENSP00000261534.4:p.Phe667Leu
ENST00000261534.8:c.2001C>G	ENSP00000261534.4:p.Phe667Leu
ENST00000452340.7:n.2977C>G
ENST00000554767.5:n.2787C>G
ENST00000555710.1:c.362C>G	ENSP00000451730.1:n.362C>G
ENST00000556394.1:c.88-252C>G
ENST00000556446.1:n.302C>G
ENST00000602717.5:c.216C>G	ENSP00000487704.1:p.Phe72Leu
NM_013382.5:c.2001C>G , LRG_844t1:c.2001C>G	NP_037514.2:p.Phe667Leu
XM_011536675.1:c.2190C>G	XP_011534977.1:p.Phe730Leu
XM_011536676.1:c.1857C>G	XP_011534978.1:p.Phe619Leu
XM_011536677.1:c.1731C>G	XP_011534979.1:p.Phe577Leu
XM_011536679.1:c.1284C>G	XP_011534981.1:p.Phe428Leu
XR_943416.1:n.2254C>G
XM_011536675.2:c.2190C>G	XP_011534977.1:p.Phe730Leu
XM_011536676.2:c.1857C>G	XP_011534978.1:p.Phe619Leu
XM_011536677.3:c.1731C>G	XP_011534979.1:p.Phe577Leu
XR_001750279.1:n.2287C>G
XR_001750282.1:n.2940C>G
XR_943416.3:n.2252C>G
NM_013382.6:c.2001C>G	NP_037514.2:p.Phe667Leu
NM_013382.7:c.2001C>G MANE Select	NP_037514.2:p.Phe667Leu