Canonical Allele Identifier: CA263818984

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77280088A>G , CM000676.2:g.77280088A>G	GRCh38
NC_000014.8:g.77746431A>G , CM000676.1:g.77746431A>G	GRCh37
NC_000014.7:g.76816184A>G	NCBI36
NG_008897.1:g.45795T>C , LRG_844:g.45795T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_013382.7:c.1726-8T>C MANE Select	NP_037514.2:n.1726-8T>C
ENST00000261534.9:c.1726-8T>C MANE Select	ENSP00000261534.4:n.1726-8T>C
NM_013382.5:c.1726-8T>C , LRG_844t1:c.1726-8T>C	NP_037514.2:n.1726-8T>C
NM_013382.6:c.1726-8T>C	NP_037514.2:n.1726-8T>C
ENST00000261534.8:c.1726-8T>C	ENSP00000261534.4:n.1726-8T>C
ENST00000452340.7:n.1749-8T>C
ENST00000554767.5:n.2512-8T>C
ENST00000555134.1:n.365-8T>C
ENST00000555134.2:n.365-8T>C
ENST00000556171.1:c.129-8T>C
ENST00000556394.2:c.1267-8T>C	ENSP00000451967.2:n.1267-8T>C
ENST00000682247.1:c.1726-8T>C	ENSP00000507213.1:n.1726-8T>C
ENST00000682382.1:c.2374-8T>C
ENST00000682395.1:n.1904-8T>C
ENST00000682459.1:n.1429-8T>C
ENST00000682467.1:c.1726-8T>C	ENSP00000508062.1:n.1726-8T>C
ENST00000682560.1:c.302-8T>C	ENSP00000507033.1:n.302-8T>C
ENST00000682795.1:c.1726-8T>C	ENSP00000507574.1:n.1726-8T>C
ENST00000682895.1:n.1442-8T>C
ENST00000682925.1:c.216-8T>C
ENST00000682955.1:n.1014-8T>C
ENST00000682973.1:c.73-160T>C	ENSP00000508268.1:n.73-160T>C
ENST00000683095.1:c.132-8T>C	ENSP00000508040.1:n.132-8T>C
ENST00000683188.1:c.1701-8T>C
ENST00000683380.1:n.1390-8T>C
ENST00000683828.1:c.1435-8T>C
ENST00000684172.1:c.102-8T>C	ENSP00000508391.1:n.102-8T>C
ENST00000684259.1:n.2540-8T>C
ENST00000684538.1:n.152-8T>C
ENST00000684549.1:n.1277-8T>C
XM_011536675.1:c.1726-8T>C	XP_011534977.1:n.1726-8T>C
XM_011536675.2:c.1726-8T>C	XP_011534977.1:n.1726-8T>C
XM_011536676.1:c.1393-8T>C	XP_011534978.1:n.1393-8T>C
XM_011536676.2:c.1393-8T>C	XP_011534978.1:n.1393-8T>C
XM_011536677.1:c.1267-8T>C	XP_011534979.1:n.1267-8T>C
XM_011536677.3:c.1267-8T>C	XP_011534979.1:n.1267-8T>C
XM_011536678.1:c.1726-8T>C	XP_011534980.1:n.1726-8T>C
XM_011536679.1:c.820-8T>C	XP_011534981.1:n.820-8T>C
XR_001750279.1:n.1926-8T>C
XR_001750282.1:n.2379-8T>C
XR_943416.1:n.1929-8T>C
XR_943416.3:n.1927-8T>C