Canonical Allele Identifier: CA390514061

Gene: POMT2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.870C>T
ENST00000556394.2:c.1486C>T	ENSP00000451967.2:p.Leu496Phe
ENST00000682128.1:c.246C>T	ENSP00000506976.1:n.246C>T
ENST00000682247.1:c.1934C>T	ENSP00000507213.1:p.Thr645Ile
ENST00000682395.1:n.2409C>T
ENST00000682459.1:n.1648C>T
ENST00000682467.1:c.1892-308C>T	ENSP00000508062.1:n.1892-308C>T
ENST00000682615.1:n.299C>T
ENST00000682795.1:c.2092C>T	ENSP00000507574.1:p.Leu698Phe
ENST00000682895.1:n.1661C>T
ENST00000682955.1:n.1519C>T
ENST00000683095.1:c.351C>T	ENSP00000508040.1:n.351C>T
ENST00000683188.1:c.2206C>T
ENST00000683380.1:n.1609C>T
ENST00000683828.1:c.1654C>T
ENST00000683907.1:c.210C>T	ENSP00000507754.1:p.His70=
ENST00000684172.1:c.321C>T	ENSP00000508391.1:n.321C>T
ENST00000684259.1:n.3712C>T
ENST00000684538.1:n.1324C>T
ENST00000684549.1:n.1496C>T
ENST00000261534.9:c.1945C>T MANE Select	ENSP00000261534.4:p.Leu649Phe
ENST00000261534.8:c.1945C>T	ENSP00000261534.4:p.Leu649Phe
ENST00000452340.7:n.2921C>T
ENST00000554767.5:n.2731C>T
ENST00000555134.1:n.870C>T
ENST00000555710.1:c.306C>T	ENSP00000451730.1:n.306C>T
ENST00000556171.1:c.537C>T
ENST00000556394.1:c.88-308C>T
ENST00000556446.1:n.246C>T
ENST00000602717.5:c.160C>T	ENSP00000487704.1:p.Leu54Phe
NM_013382.5:c.1945C>T , LRG_844t1:c.1945C>T	NP_037514.2:p.Leu649Phe
XM_011536675.1:c.2134C>T	XP_011534977.1:p.Leu712Phe
XM_011536676.1:c.1801C>T	XP_011534978.1:p.Leu601Phe
XM_011536677.1:c.1675C>T	XP_011534979.1:p.Leu559Phe
XM_011536679.1:c.1228C>T	XP_011534981.1:p.Leu410Phe
XR_943416.1:n.2198C>T
XM_011536675.2:c.2134C>T	XP_011534977.1:p.Leu712Phe
XM_011536676.2:c.1801C>T	XP_011534978.1:p.Leu601Phe
XM_011536677.3:c.1675C>T	XP_011534979.1:p.Leu559Phe
XR_001750279.1:n.2231C>T
XR_001750282.1:n.2884C>T
XR_943416.3:n.2196C>T
NM_013382.6:c.1945C>T	NP_037514.2:p.Leu649Phe
NM_013382.7:c.1945C>T MANE Select	NP_037514.2:p.Leu649Phe