Canonical Allele Identifier: CA7285516
Gene: POMT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 283477
dbSNP Id: rs554801559

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77277406T>C , CM000676.2:g.77277406T>C GRCh38
NC_000014.8:g.77743749T>C , CM000676.1:g.77743749T>C GRCh37
NC_000014.7:g.76813502T>C NCBI36
NG_008897.1:g.48477A>G , LRG_844:g.48477A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000555134.2:n.1148A>G
ENST00000556394.2:c.1764A>G ENSP00000451967.2:p.Gly588=
ENST00000682247.1:c.2212A>G ENSP00000507213.1:p.Thr738Ala
ENST00000682395.1:n.2687A>G
ENST00000682459.1:n.1926A>G
ENST00000682467.1:c.2082A>G ENSP00000508062.1:p.Gly694=
ENST00000682795.1:c.2370A>G ENSP00000507574.1:p.Gly790=
ENST00000682895.1:n.1939A>G
ENST00000682897.1:c.76A>G
ENST00000682955.1:n.1797A>G
ENST00000683188.1:c.2484A>G
ENST00000683380.1:n.1887A>G
ENST00000683784.1:c.76A>G
ENST00000684259.1:n.3990A>G
ENST00000684538.1:n.1602A>G
ENST00000684549.1:n.1774A>G
ENST00000261534.9:c.2223A>G MANE Select ENSP00000261534.4:p.Gly741=
ENST00000261534.8:c.2223A>G ENSP00000261534.4:p.Gly741=
ENST00000452340.7:n.3199A>G
ENST00000554767.5:n.3009A>G
ENST00000556394.1:c.278A>G
ENST00000602717.5:c.363-128A>G ENSP00000487704.1:n.363-128A>G
NM_013382.5:c.2223A>G , LRG_844t1:c.2223A>G NP_037514.2:p.Gly741=
XM_011536675.1:c.2412A>G XP_011534977.1:p.Gly804=
XM_011536676.1:c.2079A>G XP_011534978.1:p.Gly693=
XM_011536677.1:c.1953A>G XP_011534979.1:p.Gly651=
XM_011536679.1:c.1506A>G XP_011534981.1:p.Gly502=
XR_943416.1:n.2476A>G
XM_011536675.2:c.2412A>G XP_011534977.1:p.Gly804=
XM_011536676.2:c.2079A>G XP_011534978.1:p.Gly693=
XM_011536677.3:c.1953A>G XP_011534979.1:p.Gly651=
XR_001750279.1:n.2509A>G
XR_001750282.1:n.3162A>G
XR_943416.3:n.2474A>G
NM_013382.6:c.2223A>G NP_037514.2:p.Gly741=
NM_013382.7:c.2223A>G MANE Select NP_037514.2:p.Gly741=