Canonical Allele Identifier: CA390514142

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278834C>A , CM000676.2:g.77278834C>A	GRCh38
NC_000014.8:g.77745177C>A , CM000676.1:g.77745177C>A	GRCh37
NC_000014.7:g.76814930C>A	NCBI36
NG_008897.1:g.47049G>T , LRG_844:g.47049G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_013382.7:c.1927G>T MANE Select	NP_037514.2:p.Val643Phe
ENST00000261534.9:c.1927G>T MANE Select	ENSP00000261534.4:p.Val643Phe
NM_013382.5:c.1927G>T , LRG_844t1:c.1927G>T	NP_037514.2:p.Val643Phe
NM_013382.6:c.1927G>T	NP_037514.2:p.Val643Phe
ENST00000261534.8:c.1927G>T	ENSP00000261534.4:p.Val643Phe
ENST00000452340.7:n.2903G>T
ENST00000554767.5:n.2713G>T
ENST00000555134.1:n.852G>T
ENST00000555134.2:n.852G>T
ENST00000555710.1:c.288G>T	ENSP00000451730.1:n.288G>T
ENST00000556171.1:c.519G>T
ENST00000556394.1:c.88-326G>T
ENST00000556394.2:c.1468G>T	ENSP00000451967.2:p.Val490Phe
ENST00000556446.1:n.228G>T
ENST00000602717.5:c.142G>T	ENSP00000487704.1:p.Val48Phe
ENST00000682128.1:c.228G>T	ENSP00000506976.1:n.228G>T
ENST00000682247.1:c.1916G>T	ENSP00000507213.1:p.Gly639Val
ENST00000682395.1:n.2391G>T
ENST00000682459.1:n.1630G>T
ENST00000682467.1:c.1892-326G>T	ENSP00000508062.1:n.1892-326G>T
ENST00000682615.1:n.281G>T
ENST00000682795.1:c.2074G>T	ENSP00000507574.1:p.Val692Phe
ENST00000682895.1:n.1643G>T
ENST00000682955.1:n.1501G>T
ENST00000683095.1:c.333G>T	ENSP00000508040.1:n.333G>T
ENST00000683188.1:c.2188G>T
ENST00000683380.1:n.1591G>T
ENST00000683828.1:c.1636G>T
ENST00000683907.1:c.192G>T	ENSP00000507754.1:p.Arg64Ser
ENST00000684172.1:c.303G>T	ENSP00000508391.1:n.303G>T
ENST00000684259.1:n.3694G>T
ENST00000684538.1:n.1306G>T
ENST00000684549.1:n.1478G>T
XM_011536675.1:c.2116G>T	XP_011534977.1:p.Val706Phe
XM_011536675.2:c.2116G>T	XP_011534977.1:p.Val706Phe
XM_011536676.1:c.1783G>T	XP_011534978.1:p.Val595Phe
XM_011536676.2:c.1783G>T	XP_011534978.1:p.Val595Phe
XM_011536677.1:c.1657G>T	XP_011534979.1:p.Val553Phe
XM_011536677.3:c.1657G>T	XP_011534979.1:p.Val553Phe
XM_011536679.1:c.1210G>T	XP_011534981.1:p.Val404Phe
XR_001750279.1:n.2213G>T
XR_001750282.1:n.2866G>T
XR_943416.1:n.2180G>T
XR_943416.3:n.2178G>T