Canonical Allele Identifier: CA390513575

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278473-A-T
• MyVariant Identifiers: chr14:g.77744816A>T (hg19) ; chr14:g.77278473A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278473A>T , CM000676.2:g.77278473A>T	GRCh38
NC_000014.8:g.77744816A>T , CM000676.1:g.77744816A>T	GRCh37
NC_000014.7:g.76814569A>T	NCBI36
NG_008897.1:g.47410T>A , LRG_844:g.47410T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.993T>A
ENST00000556394.2:c.1609T>A	ENSP00000451967.2:p.Trp537Arg
ENST00000682247.1:c.2057T>A	ENSP00000507213.1:p.Leu686Gln
ENST00000682395.1:n.2532T>A
ENST00000682459.1:n.1771T>A
ENST00000682467.1:c.1927T>A	ENSP00000508062.1:p.Trp643Arg
ENST00000682795.1:c.2215T>A	ENSP00000507574.1:p.Trp739Arg
ENST00000682895.1:n.1784T>A
ENST00000682955.1:n.1642T>A
ENST00000683188.1:c.2329T>A
ENST00000683380.1:n.1732T>A
ENST00000683907.1:c.333T>A	ENSP00000507754.1:n.333T>A
ENST00000684259.1:n.3835T>A
ENST00000684538.1:n.1447T>A
ENST00000684549.1:n.1619T>A
ENST00000261534.9:c.2068T>A MANE Select	ENSP00000261534.4:p.Trp690Arg
ENST00000261534.8:c.2068T>A	ENSP00000261534.4:p.Trp690Arg
ENST00000452340.7:n.3044T>A
ENST00000554767.5:n.2854T>A
ENST00000555710.1:c.429T>A	ENSP00000451730.1:n.429T>A
ENST00000556394.1:c.123T>A
ENST00000556446.1:n.369T>A
ENST00000602717.5:c.283T>A	ENSP00000487704.1:p.Trp95Arg
NM_013382.5:c.2068T>A , LRG_844t1:c.2068T>A	NP_037514.2:p.Trp690Arg
XM_011536675.1:c.2257T>A	XP_011534977.1:p.Trp753Arg
XM_011536676.1:c.1924T>A	XP_011534978.1:p.Trp642Arg
XM_011536677.1:c.1798T>A	XP_011534979.1:p.Trp600Arg
XM_011536679.1:c.1351T>A	XP_011534981.1:p.Trp451Arg
XR_943416.1:n.2321T>A
XM_011536675.2:c.2257T>A	XP_011534977.1:p.Trp753Arg
XM_011536676.2:c.1924T>A	XP_011534978.1:p.Trp642Arg
XM_011536677.3:c.1798T>A	XP_011534979.1:p.Trp600Arg
XR_001750279.1:n.2354T>A
XR_001750282.1:n.3007T>A
XR_943416.3:n.2319T>A
NM_013382.6:c.2068T>A	NP_037514.2:p.Trp690Arg
NM_013382.7:c.2068T>A MANE Select	NP_037514.2:p.Trp690Arg