Canonical Allele Identifier: CA390520213

Gene: POMT2

Linked Data

• gnomAD v4: 14-77301157-A-G
• MyVariant Identifiers: chr14:g.77767500A>G (hg19) ; chr14:g.77301157A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77301157A>G , CM000676.2:g.77301157A>G	GRCh38
NC_000014.8:g.77767500A>G , CM000676.1:g.77767500A>G	GRCh37
NC_000014.7:g.76837253A>G	NCBI36
NG_008897.1:g.24726T>C , LRG_844:g.24726T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553863.6:c.202T>C	ENSP00000508202.1:n.202T>C
ENST00000556394.2:c.358-1596T>C	ENSP00000451967.2:n.358-1596T>C
ENST00000556880.6:n.773T>C
ENST00000557289.2:c.93T>C
ENST00000682247.1:c.749T>C	ENSP00000507213.1:p.Ile250Thr
ENST00000682382.1:c.496-2386T>C
ENST00000682395.1:n.478T>C
ENST00000682459.1:n.413T>C
ENST00000682467.1:c.749T>C	ENSP00000508062.1:p.Ile250Thr
ENST00000682795.1:c.749T>C	ENSP00000507574.1:p.Ile250Thr
ENST00000682895.1:n.465T>C
ENST00000682955.1:n.212-2386T>C
ENST00000683167.1:c.93T>C
ENST00000683188.1:c.343-1596T>C
ENST00000683300.1:c.109+3535T>C	ENSP00000507630.1:n.109+3535T>C
ENST00000683328.1:c.109+3535T>C	ENSP00000508096.1:n.109+3535T>C
ENST00000683380.1:n.413T>C
ENST00000683398.1:c.93T>C
ENST00000683551.1:c.109+1678T>C
ENST00000683828.1:c.526-1596T>C
ENST00000684259.1:n.600T>C
ENST00000684549.1:n.368-1596T>C
ENST00000684554.1:c.93T>C
ENST00000261534.9:c.749T>C MANE Select	ENSP00000261534.4:p.Ile250Thr
ENST00000261534.8:c.749T>C	ENSP00000261534.4:p.Ile250Thr
ENST00000452340.7:n.772T>C
ENST00000553863.5:n.413T>C
ENST00000554767.5:n.7T>C
ENST00000555675.5:n.465T>C
ENST00000556326.5:c.*415T>C	ENSP00000450630.1:n.*415T>C
ENST00000557289.1:c.56-1596T>C	ENSP00000451115.1:n.56-1596T>C
NM_013382.5:c.749T>C , LRG_844t1:c.749T>C	NP_037514.2:p.Ile250Thr
XM_011536675.1:c.749T>C	XP_011534977.1:p.Ile250Thr
XM_011536676.1:c.416T>C	XP_011534978.1:p.Ile139Thr
XM_011536677.1:c.547+3535T>C	XP_011534979.1:n.547+3535T>C
XM_011536678.1:c.749T>C	XP_011534980.1:p.Ile250Thr
XM_011536679.1:c.-90-1596T>C	XP_011534981.1:n.-90-1596T>C
XM_011536680.1:c.749T>C	XP_011534982.1:p.Ile250Thr
XR_943416.1:n.952T>C
XM_011536675.2:c.749T>C	XP_011534977.1:p.Ile250Thr
XM_011536676.2:c.416T>C	XP_011534978.1:p.Ile139Thr
XM_011536677.3:c.547+3535T>C	XP_011534979.1:n.547+3535T>C
XR_001750279.1:n.949T>C
XR_001750282.1:n.953T>C
XR_943416.3:n.950T>C
NM_013382.6:c.749T>C	NP_037514.2:p.Ile250Thr
NM_013382.7:c.749T>C MANE Select	NP_037514.2:p.Ile250Thr