Canonical Allele Identifier: CA390514404

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77279822C>G , CM000676.2:g.77279822C>G	GRCh38
NC_000014.8:g.77746165C>G , CM000676.1:g.77746165C>G	GRCh37
NC_000014.7:g.76815918C>G	NCBI36
NG_008897.1:g.46061G>C , LRG_844:g.46061G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_013382.7:c.1891+1G>C MANE Select	NP_037514.2:n.1891+1G>C
ENST00000261534.9:c.1891+1G>C MANE Select	ENSP00000261534.4:n.1891+1G>C
NM_013382.5:c.1891+1G>C , LRG_844t1:c.1891+1G>C	NP_037514.2:n.1891+1G>C
NM_013382.6:c.1891+1G>C	NP_037514.2:n.1891+1G>C
ENST00000261534.8:c.1891+1G>C	ENSP00000261534.4:n.1891+1G>C
ENST00000452340.7:n.1915G>C
ENST00000554767.5:n.2677+1G>C
ENST00000555134.1:n.531G>C
ENST00000555134.2:n.531G>C
ENST00000555710.1:c.160+1G>C	ENSP00000451730.1:n.160+1G>C
ENST00000556171.1:c.295G>C
ENST00000556394.1:c.87+1G>C
ENST00000556394.2:c.1432+1G>C	ENSP00000451967.2:n.1432+1G>C
ENST00000602717.5:c.106+1G>C	ENSP00000487704.1:n.106+1G>C
ENST00000682128.1:c.106+1G>C	ENSP00000506976.1:n.106+1G>C
ENST00000682247.1:c.1891+1G>C	ENSP00000507213.1:n.1891+1G>C
ENST00000682382.1:c.2540G>C
ENST00000682395.1:n.2070G>C
ENST00000682459.1:n.1594+1G>C
ENST00000682467.1:c.1891+1G>C	ENSP00000508062.1:n.1891+1G>C
ENST00000682615.1:n.107G>C
ENST00000682795.1:c.1891+1G>C	ENSP00000507574.1:n.1891+1G>C
ENST00000682895.1:n.1607+1G>C
ENST00000682955.1:n.1180G>C
ENST00000683095.1:c.297+1G>C	ENSP00000508040.1:n.297+1G>C
ENST00000683188.1:c.1867G>C
ENST00000683380.1:n.1555+1G>C
ENST00000683828.1:c.1600+1G>C
ENST00000683907.1:c.106+1G>C	ENSP00000507754.1:n.106+1G>C
ENST00000684172.1:c.267+1G>C	ENSP00000508391.1:n.267+1G>C
ENST00000684259.1:n.2706G>C
ENST00000684538.1:n.318G>C
ENST00000684549.1:n.1442+1G>C
XM_011536675.1:c.1892G>C	XP_011534977.1:p.Gly631Ala
XM_011536675.2:c.1892G>C	XP_011534977.1:p.Gly631Ala
XM_011536676.1:c.1559G>C	XP_011534978.1:p.Gly520Ala
XM_011536676.2:c.1559G>C	XP_011534978.1:p.Gly520Ala
XM_011536677.1:c.1433G>C	XP_011534979.1:p.Gly478Ala
XM_011536677.3:c.1433G>C	XP_011534979.1:p.Gly478Ala
XM_011536678.1:c.1891+1G>C	XP_011534980.1:n.1891+1G>C
XM_011536679.1:c.986G>C	XP_011534981.1:p.Gly329Ala
XR_001750279.1:n.2091+1G>C
XR_001750282.1:n.2545G>C
XR_943416.1:n.2094+1G>C
XR_943416.3:n.2092+1G>C