Canonical Allele Identifier: CA390513760

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745088G>T (hg19) ; chr14:g.77278745G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278745G>T , CM000676.2:g.77278745G>T	GRCh38
NC_000014.8:g.77745088G>T , CM000676.1:g.77745088G>T	GRCh37
NC_000014.7:g.76814841G>T	NCBI36
NG_008897.1:g.47138C>A , LRG_844:g.47138C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.941C>A
ENST00000556394.2:c.1557C>A	ENSP00000451967.2:p.Phe519Leu
ENST00000682128.1:c.317C>A	ENSP00000506976.1:n.317C>A
ENST00000682247.1:c.2005C>A	ENSP00000507213.1:p.Leu669Ile
ENST00000682395.1:n.2480C>A
ENST00000682459.1:n.1719C>A
ENST00000682467.1:c.1892-237C>A	ENSP00000508062.1:n.1892-237C>A
ENST00000682615.1:n.370C>A
ENST00000682795.1:c.2163C>A	ENSP00000507574.1:p.Phe721Leu
ENST00000682895.1:n.1732C>A
ENST00000682955.1:n.1590C>A
ENST00000683095.1:c.422C>A	ENSP00000508040.1:n.422C>A
ENST00000683188.1:c.2277C>A
ENST00000683380.1:n.1680C>A
ENST00000683907.1:c.281C>A	ENSP00000507754.1:n.281C>A
ENST00000684172.1:c.392C>A	ENSP00000508391.1:n.392C>A
ENST00000684259.1:n.3783C>A
ENST00000684538.1:n.1395C>A
ENST00000684549.1:n.1567C>A
ENST00000261534.9:c.2016C>A MANE Select	ENSP00000261534.4:p.Phe672Leu
ENST00000261534.8:c.2016C>A	ENSP00000261534.4:p.Phe672Leu
ENST00000452340.7:n.2992C>A
ENST00000554767.5:n.2802C>A
ENST00000555710.1:c.377C>A	ENSP00000451730.1:n.377C>A
ENST00000556394.1:c.88-237C>A
ENST00000556446.1:n.317C>A
ENST00000602717.5:c.231C>A	ENSP00000487704.1:p.Phe77Leu
NM_013382.5:c.2016C>A , LRG_844t1:c.2016C>A	NP_037514.2:p.Phe672Leu
XM_011536675.1:c.2205C>A	XP_011534977.1:p.Phe735Leu
XM_011536676.1:c.1872C>A	XP_011534978.1:p.Phe624Leu
XM_011536677.1:c.1746C>A	XP_011534979.1:p.Phe582Leu
XM_011536679.1:c.1299C>A	XP_011534981.1:p.Phe433Leu
XR_943416.1:n.2269C>A
XM_011536675.2:c.2205C>A	XP_011534977.1:p.Phe735Leu
XM_011536676.2:c.1872C>A	XP_011534978.1:p.Phe624Leu
XM_011536677.3:c.1746C>A	XP_011534979.1:p.Phe582Leu
XR_001750279.1:n.2302C>A
XR_001750282.1:n.2955C>A
XR_943416.3:n.2267C>A
NM_013382.6:c.2016C>A	NP_037514.2:p.Phe672Leu
NM_013382.7:c.2016C>A MANE Select	NP_037514.2:p.Phe672Leu