Canonical Allele Identifier: CA390514881

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77279920C>T , CM000676.2:g.77279920C>T	GRCh38
NC_000014.8:g.77746263C>T , CM000676.1:g.77746263C>T	GRCh37
NC_000014.7:g.76816016C>T	NCBI36
NG_008897.1:g.45963G>A , LRG_844:g.45963G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_013382.7:c.1794G>A MANE Select	NP_037514.2:p.Trp598Ter
ENST00000261534.9:c.1794G>A MANE Select	ENSP00000261534.4:p.Trp598Ter
NM_013382.5:c.1794G>A , LRG_844t1:c.1794G>A	NP_037514.2:p.Trp598Ter
NM_013382.6:c.1794G>A	NP_037514.2:p.Trp598Ter
ENST00000261534.8:c.1794G>A	ENSP00000261534.4:p.Trp598Ter
ENST00000452340.7:n.1817G>A
ENST00000554767.5:n.2580G>A
ENST00000555134.1:n.433G>A
ENST00000555134.2:n.433G>A
ENST00000555710.1:c.63G>A	ENSP00000451730.1:p.Trp21Ter
ENST00000556171.1:c.197G>A
ENST00000556394.2:c.1335G>A	ENSP00000451967.2:p.Trp445Ter
ENST00000602717.5:c.9G>A	ENSP00000487704.1:p.Trp3Ter
ENST00000682128.1:c.9G>A	ENSP00000506976.1:p.Trp3Ter
ENST00000682247.1:c.1794G>A	ENSP00000507213.1:p.Trp598Ter
ENST00000682382.1:c.2442G>A
ENST00000682395.1:n.1972G>A
ENST00000682459.1:n.1497G>A
ENST00000682467.1:c.1794G>A	ENSP00000508062.1:p.Trp598Ter
ENST00000682615.1:n.9G>A
ENST00000682795.1:c.1794G>A	ENSP00000507574.1:p.Trp598Ter
ENST00000682895.1:n.1510G>A
ENST00000682955.1:n.1082G>A
ENST00000682973.1:c.81G>A	ENSP00000508268.1:p.Trp27Ter
ENST00000683095.1:c.200G>A	ENSP00000508040.1:p.Gly67Asp
ENST00000683188.1:c.1769G>A
ENST00000683380.1:n.1458G>A
ENST00000683828.1:c.1503G>A
ENST00000683907.1:c.9G>A	ENSP00000507754.1:p.Trp3Ter
ENST00000684172.1:c.170G>A	ENSP00000508391.1:p.Gly57Asp
ENST00000684259.1:n.2608G>A
ENST00000684538.1:n.220G>A
ENST00000684549.1:n.1345G>A
XM_011536675.1:c.1794G>A	XP_011534977.1:p.Trp598Ter
XM_011536675.2:c.1794G>A	XP_011534977.1:p.Trp598Ter
XM_011536676.1:c.1461G>A	XP_011534978.1:p.Trp487Ter
XM_011536676.2:c.1461G>A	XP_011534978.1:p.Trp487Ter
XM_011536677.1:c.1335G>A	XP_011534979.1:p.Trp445Ter
XM_011536677.3:c.1335G>A	XP_011534979.1:p.Trp445Ter
XM_011536678.1:c.1794G>A	XP_011534980.1:p.Trp598Ter
XM_011536679.1:c.888G>A	XP_011534981.1:p.Trp296Ter
XR_001750279.1:n.1994G>A
XR_001750282.1:n.2447G>A
XR_943416.1:n.1997G>A
XR_943416.3:n.1995G>A