Canonical Allele Identifier: CA390513492

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77744795G>C (hg19) ; chr14:g.77278452G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278452G>C , CM000676.2:g.77278452G>C	GRCh38
NC_000014.8:g.77744795G>C , CM000676.1:g.77744795G>C	GRCh37
NC_000014.7:g.76814548G>C	NCBI36
NG_008897.1:g.47431C>G , LRG_844:g.47431C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.1014C>G
ENST00000556394.2:c.1630C>G	ENSP00000451967.2:p.Leu544Val
ENST00000682247.1:c.2078C>G	ENSP00000507213.1:p.Pro693Arg
ENST00000682395.1:n.2553C>G
ENST00000682459.1:n.1792C>G
ENST00000682467.1:c.1948C>G	ENSP00000508062.1:p.Leu650Val
ENST00000682795.1:c.2236C>G	ENSP00000507574.1:p.Leu746Val
ENST00000682895.1:n.1805C>G
ENST00000682955.1:n.1663C>G
ENST00000683188.1:c.2350C>G
ENST00000683380.1:n.1753C>G
ENST00000683907.1:c.354C>G	ENSP00000507754.1:n.354C>G
ENST00000684259.1:n.3856C>G
ENST00000684538.1:n.1468C>G
ENST00000684549.1:n.1640C>G
ENST00000261534.9:c.2089C>G MANE Select	ENSP00000261534.4:p.Leu697Val
ENST00000261534.8:c.2089C>G	ENSP00000261534.4:p.Leu697Val
ENST00000452340.7:n.3065C>G
ENST00000554767.5:n.2875C>G
ENST00000555710.1:c.450C>G	ENSP00000451730.1:n.450C>G
ENST00000556394.1:c.144C>G
ENST00000556446.1:n.390C>G
ENST00000602717.5:c.304C>G	ENSP00000487704.1:p.Leu102Val
NM_013382.5:c.2089C>G , LRG_844t1:c.2089C>G	NP_037514.2:p.Leu697Val
XM_011536675.1:c.2278C>G	XP_011534977.1:p.Leu760Val
XM_011536676.1:c.1945C>G	XP_011534978.1:p.Leu649Val
XM_011536677.1:c.1819C>G	XP_011534979.1:p.Leu607Val
XM_011536679.1:c.1372C>G	XP_011534981.1:p.Leu458Val
XR_943416.1:n.2342C>G
XM_011536675.2:c.2278C>G	XP_011534977.1:p.Leu760Val
XM_011536676.2:c.1945C>G	XP_011534978.1:p.Leu649Val
XM_011536677.3:c.1819C>G	XP_011534979.1:p.Leu607Val
XR_001750279.1:n.2375C>G
XR_001750282.1:n.3028C>G
XR_943416.3:n.2340C>G
NM_013382.6:c.2089C>G	NP_037514.2:p.Leu697Val
NM_013382.7:c.2089C>G MANE Select	NP_037514.2:p.Leu697Val