Canonical Allele Identifier: CA390520304

Gene: POMT2

Linked Data

• gnomAD v4: 14-77301200-G-T
• MyVariant Identifiers: chr14:g.77767543G>T (hg19) ; chr14:g.77301200G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77301200G>T , CM000676.2:g.77301200G>T	GRCh38
NC_000014.8:g.77767543G>T , CM000676.1:g.77767543G>T	GRCh37
NC_000014.7:g.76837296G>T	NCBI36
NG_008897.1:g.24683C>A , LRG_844:g.24683C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553863.6:c.159C>A	ENSP00000508202.1:n.159C>A
ENST00000556394.2:c.358-1639C>A	ENSP00000451967.2:n.358-1639C>A
ENST00000556880.6:n.730C>A
ENST00000557289.2:c.50C>A
ENST00000682247.1:c.706C>A	ENSP00000507213.1:p.Leu236Ile
ENST00000682382.1:c.496-2429C>A
ENST00000682395.1:n.435C>A
ENST00000682459.1:n.370C>A
ENST00000682467.1:c.706C>A	ENSP00000508062.1:p.Leu236Ile
ENST00000682795.1:c.706C>A	ENSP00000507574.1:p.Leu236Ile
ENST00000682895.1:n.422C>A
ENST00000682955.1:n.212-2429C>A
ENST00000683167.1:c.50C>A
ENST00000683188.1:c.343-1639C>A
ENST00000683300.1:c.109+3492C>A	ENSP00000507630.1:n.109+3492C>A
ENST00000683328.1:c.109+3492C>A	ENSP00000508096.1:n.109+3492C>A
ENST00000683380.1:n.370C>A
ENST00000683398.1:c.50C>A
ENST00000683551.1:c.109+1635C>A
ENST00000683828.1:c.525+1635C>A
ENST00000684259.1:n.557C>A
ENST00000684549.1:n.368-1639C>A
ENST00000684554.1:c.50C>A
ENST00000261534.9:c.706C>A MANE Select	ENSP00000261534.4:p.Leu236Ile
ENST00000261534.8:c.706C>A	ENSP00000261534.4:p.Leu236Ile
ENST00000452340.7:n.729C>A
ENST00000553863.5:n.370C>A
ENST00000555675.5:n.422C>A
ENST00000556326.5:c.*372C>A	ENSP00000450630.1:n.*372C>A
ENST00000557289.1:c.56-1639C>A	ENSP00000451115.1:n.56-1639C>A
NM_013382.5:c.706C>A , LRG_844t1:c.706C>A	NP_037514.2:p.Leu236Ile
XM_011536675.1:c.706C>A	XP_011534977.1:p.Leu236Ile
XM_011536676.1:c.373C>A	XP_011534978.1:p.Leu125Ile
XM_011536677.1:c.547+3492C>A	XP_011534979.1:n.547+3492C>A
XM_011536678.1:c.706C>A	XP_011534980.1:p.Leu236Ile
XM_011536679.1:c.-90-1639C>A	XP_011534981.1:n.-90-1639C>A
XM_011536680.1:c.706C>A	XP_011534982.1:p.Leu236Ile
XR_943416.1:n.909C>A
XM_011536675.2:c.706C>A	XP_011534977.1:p.Leu236Ile
XM_011536676.2:c.373C>A	XP_011534978.1:p.Leu125Ile
XM_011536677.3:c.547+3492C>A	XP_011534979.1:n.547+3492C>A
XR_001750279.1:n.906C>A
XR_001750282.1:n.910C>A
XR_943416.3:n.907C>A
NM_013382.6:c.706C>A	NP_037514.2:p.Leu236Ile
NM_013382.7:c.706C>A MANE Select	NP_037514.2:p.Leu236Ile