Canonical Allele Identifier: CA390513969

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745137A>T (hg19) ; chr14:g.77278794A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278794A>T , CM000676.2:g.77278794A>T	GRCh38
NC_000014.8:g.77745137A>T , CM000676.1:g.77745137A>T	GRCh37
NC_000014.7:g.76814890A>T	NCBI36
NG_008897.1:g.47089T>A , LRG_844:g.47089T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.892T>A
ENST00000556394.2:c.1508T>A	ENSP00000451967.2:p.Leu503Gln
ENST00000682128.1:c.268T>A	ENSP00000506976.1:n.268T>A
ENST00000682247.1:c.1956T>A	ENSP00000507213.1:p.Pro652=
ENST00000682395.1:n.2431T>A
ENST00000682459.1:n.1670T>A
ENST00000682467.1:c.1892-286T>A	ENSP00000508062.1:n.1892-286T>A
ENST00000682615.1:n.321T>A
ENST00000682795.1:c.2114T>A	ENSP00000507574.1:p.Leu705Gln
ENST00000682895.1:n.1683T>A
ENST00000682955.1:n.1541T>A
ENST00000683095.1:c.373T>A	ENSP00000508040.1:n.373T>A
ENST00000683188.1:c.2228T>A
ENST00000683380.1:n.1631T>A
ENST00000683828.1:c.1676T>A
ENST00000683907.1:c.232T>A	ENSP00000507754.1:p.Ter78Arg
ENST00000684172.1:c.343T>A	ENSP00000508391.1:n.343T>A
ENST00000684259.1:n.3734T>A
ENST00000684538.1:n.1346T>A
ENST00000684549.1:n.1518T>A
ENST00000261534.9:c.1967T>A MANE Select	ENSP00000261534.4:p.Leu656Gln
ENST00000261534.8:c.1967T>A	ENSP00000261534.4:p.Leu656Gln
ENST00000452340.7:n.2943T>A
ENST00000554767.5:n.2753T>A
ENST00000555710.1:c.328T>A	ENSP00000451730.1:n.328T>A
ENST00000556171.1:c.559T>A
ENST00000556394.1:c.88-286T>A
ENST00000556446.1:n.268T>A
ENST00000602717.5:c.182T>A	ENSP00000487704.1:p.Leu61Gln
NM_013382.5:c.1967T>A , LRG_844t1:c.1967T>A	NP_037514.2:p.Leu656Gln
XM_011536675.1:c.2156T>A	XP_011534977.1:p.Leu719Gln
XM_011536676.1:c.1823T>A	XP_011534978.1:p.Leu608Gln
XM_011536677.1:c.1697T>A	XP_011534979.1:p.Leu566Gln
XM_011536679.1:c.1250T>A	XP_011534981.1:p.Leu417Gln
XR_943416.1:n.2220T>A
XM_011536675.2:c.2156T>A	XP_011534977.1:p.Leu719Gln
XM_011536676.2:c.1823T>A	XP_011534978.1:p.Leu608Gln
XM_011536677.3:c.1697T>A	XP_011534979.1:p.Leu566Gln
XR_001750279.1:n.2253T>A
XR_001750282.1:n.2906T>A
XR_943416.3:n.2218T>A
NM_013382.6:c.1967T>A	NP_037514.2:p.Leu656Gln
NM_013382.7:c.1967T>A MANE Select	NP_037514.2:p.Leu656Gln