Canonical Allele Identifier: CA390514964

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77280025T>C , CM000676.2:g.77280025T>C	GRCh38
NC_000014.8:g.77746368T>C , CM000676.1:g.77746368T>C	GRCh37
NC_000014.7:g.76816121T>C	NCBI36
NG_008897.1:g.45858A>G , LRG_844:g.45858A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_013382.7:c.1781A>G MANE Select	NP_037514.2:p.Asn594Ser
ENST00000261534.9:c.1781A>G MANE Select	ENSP00000261534.4:p.Asn594Ser
NM_013382.5:c.1781A>G , LRG_844t1:c.1781A>G	NP_037514.2:p.Asn594Ser
NM_013382.6:c.1781A>G	NP_037514.2:p.Asn594Ser
ENST00000261534.8:c.1781A>G	ENSP00000261534.4:p.Asn594Ser
ENST00000452340.7:n.1804A>G
ENST00000554767.5:n.2567A>G
ENST00000555134.1:n.420A>G
ENST00000555134.2:n.420A>G
ENST00000555710.1:c.50A>G	ENSP00000451730.1:p.Asn17Ser
ENST00000556171.1:c.184A>G
ENST00000556394.2:c.1322A>G	ENSP00000451967.2:p.Asn441Ser
ENST00000682247.1:c.1781A>G	ENSP00000507213.1:p.Asn594Ser
ENST00000682382.1:c.2429A>G
ENST00000682395.1:n.1959A>G
ENST00000682459.1:n.1484A>G
ENST00000682467.1:c.1781A>G	ENSP00000508062.1:p.Asn594Ser
ENST00000682560.1:c.357A>G	ENSP00000507033.1:n.357A>G
ENST00000682795.1:c.1781A>G	ENSP00000507574.1:p.Asn594Ser
ENST00000682895.1:n.1497A>G
ENST00000682925.1:c.271A>G
ENST00000682955.1:n.1069A>G
ENST00000682973.1:c.73-97A>G	ENSP00000508268.1:n.73-97A>G
ENST00000683095.1:c.187A>G	ENSP00000508040.1:p.Thr63Ala
ENST00000683188.1:c.1756A>G
ENST00000683380.1:n.1445A>G
ENST00000683828.1:c.1490A>G
ENST00000684172.1:c.157A>G	ENSP00000508391.1:p.Thr53Ala
ENST00000684259.1:n.2595A>G
ENST00000684538.1:n.207A>G
ENST00000684549.1:n.1332A>G
XM_011536675.1:c.1781A>G	XP_011534977.1:p.Asn594Ser
XM_011536675.2:c.1781A>G	XP_011534977.1:p.Asn594Ser
XM_011536676.1:c.1448A>G	XP_011534978.1:p.Asn483Ser
XM_011536676.2:c.1448A>G	XP_011534978.1:p.Asn483Ser
XM_011536677.1:c.1322A>G	XP_011534979.1:p.Asn441Ser
XM_011536677.3:c.1322A>G	XP_011534979.1:p.Asn441Ser
XM_011536678.1:c.1781A>G	XP_011534980.1:p.Asn594Ser
XM_011536679.1:c.875A>G	XP_011534981.1:p.Asn292Ser
XR_001750279.1:n.1981A>G
XR_001750282.1:n.2434A>G
XR_943416.1:n.1984A>G
XR_943416.3:n.1982A>G