Canonical Allele Identifier: CA390520934

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77772692C>G (hg19) ; chr14:g.77306349C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77306349C>G , CM000676.2:g.77306349C>G	GRCh38
NC_000014.8:g.77772692C>G , CM000676.1:g.77772692C>G	GRCh37
NC_000014.7:g.76842445C>G	NCBI36
NG_008897.1:g.19534G>C , LRG_844:g.19534G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555675.6:n.155G>C
ENST00000556394.2:c.249-1549G>C	ENSP00000451967.2:n.249-1549G>C
ENST00000556880.6:n.359G>C
ENST00000682247.1:c.426G>C	ENSP00000507213.1:p.Met142Ile
ENST00000682382.1:c.374G>C
ENST00000682395.1:n.155G>C
ENST00000682459.1:n.102+53G>C
ENST00000682467.1:c.426G>C	ENSP00000508062.1:p.Met142Ile
ENST00000682795.1:c.426G>C	ENSP00000507574.1:p.Met142Ile
ENST00000682895.1:n.142G>C
ENST00000682955.1:n.102+53G>C
ENST00000683188.1:c.221G>C
ENST00000683380.1:n.102+53G>C
ENST00000683828.1:c.295G>C
ENST00000684066.1:n.121G>C
ENST00000684102.1:n.172G>C
ENST00000684259.1:n.277G>C
ENST00000684479.1:n.93G>C
ENST00000684549.1:n.155G>C
ENST00000684600.1:c.240G>C
ENST00000684670.1:n.93G>C
ENST00000684746.1:n.123G>C
ENST00000261534.9:c.426G>C MANE Select	ENSP00000261534.4:p.Met142Ile
ENST00000261534.8:c.426G>C	ENSP00000261534.4:p.Met142Ile
ENST00000452340.7:n.449G>C
ENST00000553863.5:n.102+53G>C
ENST00000554948.1:c.153G>C	ENSP00000452060.1:p.Met51Ile
ENST00000555675.5:n.142G>C
ENST00000555788.5:n.260G>C
ENST00000556326.5:c.*92G>C	ENSP00000450630.1:n.*92G>C
ENST00000556880.5:n.359G>C
ENST00000557525.1:n.516G>C
NM_013382.5:c.426G>C , LRG_844t1:c.426G>C	NP_037514.2:p.Met142Ile
XM_011536675.1:c.426G>C	XP_011534977.1:p.Met142Ile
XM_011536676.1:c.93G>C	XP_011534978.1:p.Met31Ile
XM_011536677.1:c.426G>C	XP_011534979.1:p.Met142Ile
XM_011536678.1:c.426G>C	XP_011534980.1:p.Met142Ile
XM_011536680.1:c.426G>C	XP_011534982.1:p.Met142Ile
XR_943416.1:n.629G>C
XM_011536675.2:c.426G>C	XP_011534977.1:p.Met142Ile
XM_011536676.2:c.93G>C	XP_011534978.1:p.Met31Ile
XM_011536677.3:c.426G>C	XP_011534979.1:p.Met142Ile
XR_001750279.1:n.626G>C
XR_001750282.1:n.630G>C
XR_943416.3:n.627G>C
NM_013382.6:c.426G>C	NP_037514.2:p.Met142Ile
NM_013382.7:c.426G>C MANE Select	NP_037514.2:p.Met142Ile