Canonical Allele Identifier: CA2148315412
Gene: POMT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77278802C= , CM000676.2:g.77278802C= GRCh38
NC_000014.8:g.77745145C= , CM000676.1:g.77745145C= GRCh37
NC_000014.7:g.76814898C= NCBI36
NG_008897.1:g.47081G= , LRG_844:g.47081G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000555134.2:n.884G=
ENST00000556394.2:c.1500G= ENSP00000451967.2:p.Pro500=
ENST00000682128.1:c.260G= ENSP00000506976.1:n.260G=
ENST00000682247.1:c.1948G= ENSP00000507213.1:p.Val650=
ENST00000682395.1:n.2423G=
ENST00000682459.1:n.1662G=
ENST00000682467.1:c.1892-294G= ENSP00000508062.1:n.1892-294G=
ENST00000682615.1:n.313G=
ENST00000682795.1:c.2106G= ENSP00000507574.1:p.Pro702=
ENST00000682895.1:n.1675G=
ENST00000682955.1:n.1533G=
ENST00000683095.1:c.365G= ENSP00000508040.1:n.365G=
ENST00000683188.1:c.2220G=
ENST00000683380.1:n.1623G=
ENST00000683828.1:c.1668G=
ENST00000683907.1:c.224G= ENSP00000507754.1:p.Arg75=
ENST00000684172.1:c.335G= ENSP00000508391.1:n.335G=
ENST00000684259.1:n.3726G=
ENST00000684538.1:n.1338G=
ENST00000684549.1:n.1510G=
ENST00000261534.9:c.1959G= MANE Select ENSP00000261534.4:p.Pro653=
ENST00000261534.8:c.1959G= ENSP00000261534.4:p.Pro653=
ENST00000452340.7:n.2935G=
ENST00000554767.5:n.2745G=
ENST00000555710.1:c.320G= ENSP00000451730.1:n.320G=
ENST00000556171.1:c.551G=
ENST00000556394.1:c.88-294G=
ENST00000556446.1:n.260G=
ENST00000602717.5:c.174G= ENSP00000487704.1:p.Pro58=
NM_013382.5:c.1959G= , LRG_844t1:c.1959G= NP_037514.2:p.Pro653=
XM_011536675.1:c.2148G= XP_011534977.1:p.Pro716=
XM_011536676.1:c.1815G= XP_011534978.1:p.Pro605=
XM_011536677.1:c.1689G= XP_011534979.1:p.Pro563=
XM_011536679.1:c.1242G= XP_011534981.1:p.Pro414=
XR_943416.1:n.2212G=
XM_011536675.2:c.2148G= XP_011534977.1:p.Pro716=
XM_011536676.2:c.1815G= XP_011534978.1:p.Pro605=
XM_011536677.3:c.1689G= XP_011534979.1:p.Pro563=
XR_001750279.1:n.2245G=
XR_001750282.1:n.2898G=
XR_943416.3:n.2210G=
NM_013382.6:c.1959G= NP_037514.2:p.Pro653=
NM_013382.7:c.1959G= MANE Select NP_037514.2:p.Pro653=