Canonical Allele Identifier: CA390520919

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77772686C>A (hg19) ; chr14:g.77306343C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77306343C>A , CM000676.2:g.77306343C>A	GRCh38
NC_000014.8:g.77772686C>A , CM000676.1:g.77772686C>A	GRCh37
NC_000014.7:g.76842439C>A	NCBI36
NG_008897.1:g.19540G>T , LRG_844:g.19540G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555675.6:n.161G>T
ENST00000556394.2:c.249-1543G>T	ENSP00000451967.2:n.249-1543G>T
ENST00000556880.6:n.365G>T
ENST00000682247.1:c.432G>T	ENSP00000507213.1:p.Met144Ile
ENST00000682382.1:c.380G>T
ENST00000682395.1:n.161G>T
ENST00000682459.1:n.102+59G>T
ENST00000682467.1:c.432G>T	ENSP00000508062.1:p.Met144Ile
ENST00000682795.1:c.432G>T	ENSP00000507574.1:p.Met144Ile
ENST00000682895.1:n.148G>T
ENST00000682955.1:n.102+59G>T
ENST00000683188.1:c.227G>T
ENST00000683380.1:n.102+59G>T
ENST00000683828.1:c.301G>T
ENST00000684066.1:n.127G>T
ENST00000684102.1:n.178G>T
ENST00000684259.1:n.283G>T
ENST00000684479.1:n.99G>T
ENST00000684549.1:n.161G>T
ENST00000684600.1:c.246G>T
ENST00000684670.1:n.99G>T
ENST00000684746.1:n.129G>T
ENST00000261534.9:c.432G>T MANE Select	ENSP00000261534.4:p.Met144Ile
ENST00000261534.8:c.432G>T	ENSP00000261534.4:p.Met144Ile
ENST00000452340.7:n.455G>T
ENST00000553863.5:n.102+59G>T
ENST00000554948.1:c.159G>T	ENSP00000452060.1:p.Met53Ile
ENST00000555675.5:n.148G>T
ENST00000555788.5:n.266G>T
ENST00000556326.5:c.*98G>T	ENSP00000450630.1:n.*98G>T
ENST00000556880.5:n.365G>T
ENST00000557525.1:n.522G>T
NM_013382.5:c.432G>T , LRG_844t1:c.432G>T	NP_037514.2:p.Met144Ile
XM_011536675.1:c.432G>T	XP_011534977.1:p.Met144Ile
XM_011536676.1:c.99G>T	XP_011534978.1:p.Met33Ile
XM_011536677.1:c.432G>T	XP_011534979.1:p.Met144Ile
XM_011536678.1:c.432G>T	XP_011534980.1:p.Met144Ile
XM_011536680.1:c.432G>T	XP_011534982.1:p.Met144Ile
XR_943416.1:n.635G>T
XM_011536675.2:c.432G>T	XP_011534977.1:p.Met144Ile
XM_011536676.2:c.99G>T	XP_011534978.1:p.Met33Ile
XM_011536677.3:c.432G>T	XP_011534979.1:p.Met144Ile
XR_001750279.1:n.632G>T
XR_001750282.1:n.636G>T
XR_943416.3:n.633G>T
NM_013382.6:c.432G>T	NP_037514.2:p.Met144Ile
NM_013382.7:c.432G>T MANE Select	NP_037514.2:p.Met144Ile