Canonical Allele Identifier: CA390514397

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77279821A>G , CM000676.2:g.77279821A>G	GRCh38
NC_000014.8:g.77746164A>G , CM000676.1:g.77746164A>G	GRCh37
NC_000014.7:g.76815917A>G	NCBI36
NG_008897.1:g.46062T>C , LRG_844:g.46062T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_013382.7:c.1891+2T>C MANE Select	NP_037514.2:n.1891+2T>C
ENST00000261534.9:c.1891+2T>C MANE Select	ENSP00000261534.4:n.1891+2T>C
NM_013382.5:c.1891+2T>C , LRG_844t1:c.1891+2T>C	NP_037514.2:n.1891+2T>C
NM_013382.6:c.1891+2T>C	NP_037514.2:n.1891+2T>C
ENST00000261534.8:c.1891+2T>C	ENSP00000261534.4:n.1891+2T>C
ENST00000452340.7:n.1916T>C
ENST00000554767.5:n.2677+2T>C
ENST00000555134.1:n.532T>C
ENST00000555134.2:n.532T>C
ENST00000555710.1:c.160+2T>C	ENSP00000451730.1:n.160+2T>C
ENST00000556171.1:c.296T>C
ENST00000556394.1:c.87+2T>C
ENST00000556394.2:c.1432+2T>C	ENSP00000451967.2:n.1432+2T>C
ENST00000602717.5:c.106+2T>C	ENSP00000487704.1:n.106+2T>C
ENST00000682128.1:c.106+2T>C	ENSP00000506976.1:n.106+2T>C
ENST00000682247.1:c.1891+2T>C	ENSP00000507213.1:n.1891+2T>C
ENST00000682382.1:c.2541T>C
ENST00000682395.1:n.2071T>C
ENST00000682459.1:n.1594+2T>C
ENST00000682467.1:c.1891+2T>C	ENSP00000508062.1:n.1891+2T>C
ENST00000682615.1:n.108T>C
ENST00000682795.1:c.1891+2T>C	ENSP00000507574.1:n.1891+2T>C
ENST00000682895.1:n.1607+2T>C
ENST00000682955.1:n.1181T>C
ENST00000683095.1:c.297+2T>C	ENSP00000508040.1:n.297+2T>C
ENST00000683188.1:c.1868T>C
ENST00000683380.1:n.1555+2T>C
ENST00000683828.1:c.1600+2T>C
ENST00000683907.1:c.106+2T>C	ENSP00000507754.1:n.106+2T>C
ENST00000684172.1:c.267+2T>C	ENSP00000508391.1:n.267+2T>C
ENST00000684259.1:n.2707T>C
ENST00000684538.1:n.319T>C
ENST00000684549.1:n.1442+2T>C
XM_011536675.1:c.1893T>C	XP_011534977.1:p.Gly631=
XM_011536675.2:c.1893T>C	XP_011534977.1:p.Gly631=
XM_011536676.1:c.1560T>C	XP_011534978.1:p.Gly520=
XM_011536676.2:c.1560T>C	XP_011534978.1:p.Gly520=
XM_011536677.1:c.1434T>C	XP_011534979.1:p.Gly478=
XM_011536677.3:c.1434T>C	XP_011534979.1:p.Gly478=
XM_011536678.1:c.1891+2T>C	XP_011534980.1:n.1891+2T>C
XM_011536679.1:c.987T>C	XP_011534981.1:p.Gly329=
XR_001750279.1:n.2091+2T>C
XR_001750282.1:n.2546T>C
XR_943416.1:n.2094+2T>C
XR_943416.3:n.2092+2T>C