Canonical Allele Identifier: CA7285931

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77288829G>A , CM000676.2:g.77288829G>A	GRCh38
NC_000014.8:g.77755172G>A , CM000676.1:g.77755172G>A	GRCh37
NC_000014.7:g.76824925G>A	NCBI36
NG_008897.1:g.37054C>T , LRG_844:g.37054C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_013382.7:c.1186C>T MANE Select	NP_037514.2:p.Pro396Ser
ENST00000261534.9:c.1186C>T MANE Select	ENSP00000261534.4:p.Pro396Ser
NM_013382.5:c.1186C>T , LRG_844t1:c.1186C>T	NP_037514.2:p.Pro396Ser
NM_013382.6:c.1186C>T	NP_037514.2:p.Pro396Ser
ENST00000261534.8:c.1186C>T	ENSP00000261534.4:p.Pro396Ser
ENST00000452340.7:n.1209C>T
ENST00000553880.5:n.57C>T
ENST00000554767.5:n.1972C>T
ENST00000556394.2:c.727C>T	ENSP00000451967.2:p.Pro243Ser
ENST00000556851.1:n.183C>T
ENST00000557675.5:n.276C>T
ENST00000682247.1:c.1186C>T	ENSP00000507213.1:p.Pro396Ser
ENST00000682382.1:c.758C>T
ENST00000682395.1:n.915C>T
ENST00000682459.1:n.850C>T
ENST00000682467.1:c.1186C>T	ENSP00000508062.1:p.Pro396Ser
ENST00000682795.1:c.1186C>T	ENSP00000507574.1:p.Pro396Ser
ENST00000682895.1:n.902C>T
ENST00000682955.1:n.474C>T
ENST00000683188.1:c.712C>T
ENST00000683328.1:c.179C>T	ENSP00000508096.1:n.179C>T
ENST00000683380.1:n.850C>T
ENST00000683828.1:c.895C>T
ENST00000684259.1:n.1037C>T
ENST00000684549.1:n.737C>T
XM_011536675.1:c.1186C>T	XP_011534977.1:p.Pro396Ser
XM_011536675.2:c.1186C>T	XP_011534977.1:p.Pro396Ser
XM_011536676.1:c.853C>T	XP_011534978.1:p.Pro285Ser
XM_011536676.2:c.853C>T	XP_011534978.1:p.Pro285Ser
XM_011536677.1:c.727C>T	XP_011534979.1:p.Pro243Ser
XM_011536677.3:c.727C>T	XP_011534979.1:p.Pro243Ser
XM_011536678.1:c.1186C>T	XP_011534980.1:p.Pro396Ser
XM_011536679.1:c.280C>T	XP_011534981.1:p.Pro94Ser
XM_011536680.1:c.1186C>T	XP_011534982.1:p.Pro396Ser
XR_001750279.1:n.1386C>T
XR_001750282.1:n.1390C>T
XR_943416.1:n.1389C>T
XR_943416.3:n.1387C>T