Canonical Allele Identifier: CA390513718

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745077A>T (hg19) ; chr14:g.77278734A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278734A>T , CM000676.2:g.77278734A>T	GRCh38
NC_000014.8:g.77745077A>T , CM000676.1:g.77745077A>T	GRCh37
NC_000014.7:g.76814830A>T	NCBI36
NG_008897.1:g.47149T>A , LRG_844:g.47149T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.952T>A
ENST00000556394.2:c.1568T>A	ENSP00000451967.2:p.Leu523Ter
ENST00000682128.1:c.328T>A	ENSP00000506976.1:n.328T>A
ENST00000682247.1:c.2016T>A	ENSP00000507213.1:p.Val672=
ENST00000682395.1:n.2491T>A
ENST00000682459.1:n.1730T>A
ENST00000682467.1:c.1892-226T>A	ENSP00000508062.1:n.1892-226T>A
ENST00000682615.1:n.381T>A
ENST00000682795.1:c.2174T>A	ENSP00000507574.1:p.Leu725Ter
ENST00000682895.1:n.1743T>A
ENST00000682955.1:n.1601T>A
ENST00000683095.1:c.433T>A	ENSP00000508040.1:n.433T>A
ENST00000683188.1:c.2288T>A
ENST00000683380.1:n.1691T>A
ENST00000683907.1:c.292T>A	ENSP00000507754.1:n.292T>A
ENST00000684172.1:c.403T>A	ENSP00000508391.1:n.403T>A
ENST00000684259.1:n.3794T>A
ENST00000684538.1:n.1406T>A
ENST00000684549.1:n.1578T>A
ENST00000261534.9:c.2027T>A MANE Select	ENSP00000261534.4:p.Leu676Ter
ENST00000261534.8:c.2027T>A	ENSP00000261534.4:p.Leu676Ter
ENST00000452340.7:n.3003T>A
ENST00000554767.5:n.2813T>A
ENST00000555710.1:c.388T>A	ENSP00000451730.1:n.388T>A
ENST00000556394.1:c.88-226T>A
ENST00000556446.1:n.328T>A
ENST00000602717.5:c.242T>A	ENSP00000487704.1:p.Leu81Ter
NM_013382.5:c.2027T>A , LRG_844t1:c.2027T>A	NP_037514.2:p.Leu676Ter
XM_011536675.1:c.2216T>A	XP_011534977.1:p.Leu739Ter
XM_011536676.1:c.1883T>A	XP_011534978.1:p.Leu628Ter
XM_011536677.1:c.1757T>A	XP_011534979.1:p.Leu586Ter
XM_011536679.1:c.1310T>A	XP_011534981.1:p.Leu437Ter
XR_943416.1:n.2280T>A
XM_011536675.2:c.2216T>A	XP_011534977.1:p.Leu739Ter
XM_011536676.2:c.1883T>A	XP_011534978.1:p.Leu628Ter
XM_011536677.3:c.1757T>A	XP_011534979.1:p.Leu586Ter
XR_001750279.1:n.2313T>A
XR_001750282.1:n.2966T>A
XR_943416.3:n.2278T>A
NM_013382.6:c.2027T>A	NP_037514.2:p.Leu676Ter
NM_013382.7:c.2027T>A MANE Select	NP_037514.2:p.Leu676Ter