Canonical Allele Identifier: CA390513494

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278452-G-T
• MyVariant Identifiers: chr14:g.77744795G>T (hg19) ; chr14:g.77278452G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.1014C>A
ENST00000556394.2:c.1630C>A	ENSP00000451967.2:p.Leu544Met
ENST00000682247.1:c.2078C>A	ENSP00000507213.1:p.Pro693His
ENST00000682395.1:n.2553C>A
ENST00000682459.1:n.1792C>A
ENST00000682467.1:c.1948C>A	ENSP00000508062.1:p.Leu650Met
ENST00000682795.1:c.2236C>A	ENSP00000507574.1:p.Leu746Met
ENST00000682895.1:n.1805C>A
ENST00000682955.1:n.1663C>A
ENST00000683188.1:c.2350C>A
ENST00000683380.1:n.1753C>A
ENST00000683907.1:c.354C>A	ENSP00000507754.1:n.354C>A
ENST00000684259.1:n.3856C>A
ENST00000684538.1:n.1468C>A
ENST00000684549.1:n.1640C>A
ENST00000261534.9:c.2089C>A MANE Select	ENSP00000261534.4:p.Leu697Met
ENST00000261534.8:c.2089C>A	ENSP00000261534.4:p.Leu697Met
ENST00000452340.7:n.3065C>A
ENST00000554767.5:n.2875C>A
ENST00000555710.1:c.450C>A	ENSP00000451730.1:n.450C>A
ENST00000556394.1:c.144C>A
ENST00000556446.1:n.390C>A
ENST00000602717.5:c.304C>A	ENSP00000487704.1:p.Leu102Met
NM_013382.5:c.2089C>A , LRG_844t1:c.2089C>A	NP_037514.2:p.Leu697Met
XM_011536675.1:c.2278C>A	XP_011534977.1:p.Leu760Met
XM_011536676.1:c.1945C>A	XP_011534978.1:p.Leu649Met
XM_011536677.1:c.1819C>A	XP_011534979.1:p.Leu607Met
XM_011536679.1:c.1372C>A	XP_011534981.1:p.Leu458Met
XR_943416.1:n.2342C>A
XM_011536675.2:c.2278C>A	XP_011534977.1:p.Leu760Met
XM_011536676.2:c.1945C>A	XP_011534978.1:p.Leu649Met
XM_011536677.3:c.1819C>A	XP_011534979.1:p.Leu607Met
XR_001750279.1:n.2375C>A
XR_001750282.1:n.3028C>A
XR_943416.3:n.2340C>A
NM_013382.6:c.2089C>A	NP_037514.2:p.Leu697Met
NM_013382.7:c.2089C>A MANE Select	NP_037514.2:p.Leu697Met