Canonical Allele Identifier: CA390514064

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745159G>T (hg19) ; chr14:g.77278816G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278816G>T , CM000676.2:g.77278816G>T	GRCh38
NC_000014.8:g.77745159G>T , CM000676.1:g.77745159G>T	GRCh37
NC_000014.7:g.76814912G>T	NCBI36
NG_008897.1:g.47067C>A , LRG_844:g.47067C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.870C>A
ENST00000556394.2:c.1486C>A	ENSP00000451967.2:p.Leu496Ile
ENST00000682128.1:c.246C>A	ENSP00000506976.1:n.246C>A
ENST00000682247.1:c.1934C>A	ENSP00000507213.1:p.Thr645Asn
ENST00000682395.1:n.2409C>A
ENST00000682459.1:n.1648C>A
ENST00000682467.1:c.1892-308C>A	ENSP00000508062.1:n.1892-308C>A
ENST00000682615.1:n.299C>A
ENST00000682795.1:c.2092C>A	ENSP00000507574.1:p.Leu698Ile
ENST00000682895.1:n.1661C>A
ENST00000682955.1:n.1519C>A
ENST00000683095.1:c.351C>A	ENSP00000508040.1:n.351C>A
ENST00000683188.1:c.2206C>A
ENST00000683380.1:n.1609C>A
ENST00000683828.1:c.1654C>A
ENST00000683907.1:c.210C>A	ENSP00000507754.1:p.His70Gln
ENST00000684172.1:c.321C>A	ENSP00000508391.1:n.321C>A
ENST00000684259.1:n.3712C>A
ENST00000684538.1:n.1324C>A
ENST00000684549.1:n.1496C>A
ENST00000261534.9:c.1945C>A MANE Select	ENSP00000261534.4:p.Leu649Ile
ENST00000261534.8:c.1945C>A	ENSP00000261534.4:p.Leu649Ile
ENST00000452340.7:n.2921C>A
ENST00000554767.5:n.2731C>A
ENST00000555134.1:n.870C>A
ENST00000555710.1:c.306C>A	ENSP00000451730.1:n.306C>A
ENST00000556171.1:c.537C>A
ENST00000556394.1:c.88-308C>A
ENST00000556446.1:n.246C>A
ENST00000602717.5:c.160C>A	ENSP00000487704.1:p.Leu54Ile
NM_013382.5:c.1945C>A , LRG_844t1:c.1945C>A	NP_037514.2:p.Leu649Ile
XM_011536675.1:c.2134C>A	XP_011534977.1:p.Leu712Ile
XM_011536676.1:c.1801C>A	XP_011534978.1:p.Leu601Ile
XM_011536677.1:c.1675C>A	XP_011534979.1:p.Leu559Ile
XM_011536679.1:c.1228C>A	XP_011534981.1:p.Leu410Ile
XR_943416.1:n.2198C>A
XM_011536675.2:c.2134C>A	XP_011534977.1:p.Leu712Ile
XM_011536676.2:c.1801C>A	XP_011534978.1:p.Leu601Ile
XM_011536677.3:c.1675C>A	XP_011534979.1:p.Leu559Ile
XR_001750279.1:n.2231C>A
XR_001750282.1:n.2884C>A
XR_943416.3:n.2196C>A
NM_013382.6:c.1945C>A	NP_037514.2:p.Leu649Ile
NM_013382.7:c.1945C>A MANE Select	NP_037514.2:p.Leu649Ile