Canonical Allele Identifier: CA390517651
Gene: POMT2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77286754C>G , CM000676.2:g.77286754C>G GRCh38
NC_000014.8:g.77753097C>G , CM000676.1:g.77753097C>G GRCh37
NC_000014.7:g.76822850C>G NCBI36
NG_008897.1:g.39129G>C , LRG_844:g.39129G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000556394.2:c.863G>C ENSP00000451967.2:p.Gly288Ala
ENST00000682247.1:c.1322G>C ENSP00000507213.1:p.Gly441Ala
ENST00000682382.1:c.894G>C
ENST00000682395.1:n.1500G>C
ENST00000682459.1:n.1025G>C
ENST00000682467.1:c.1322G>C ENSP00000508062.1:p.Gly441Ala
ENST00000682706.1:n.99G>C
ENST00000682795.1:c.1322G>C ENSP00000507574.1:p.Gly441Ala
ENST00000682895.1:n.1038G>C
ENST00000682955.1:n.610G>C
ENST00000683188.1:c.1297G>C
ENST00000683328.1:c.315G>C ENSP00000508096.1:n.315G>C
ENST00000683380.1:n.986G>C
ENST00000683828.1:c.1031G>C
ENST00000684259.1:n.1173G>C
ENST00000684444.1:c.69G>C
ENST00000684549.1:n.873G>C
ENST00000261534.9:c.1322G>C MANE Select ENSP00000261534.4:p.Gly441Ala
ENST00000261534.8:c.1322G>C ENSP00000261534.4:p.Gly441Ala
ENST00000452340.7:n.1345G>C
ENST00000553880.5:n.193G>C
ENST00000554767.5:n.2108G>C
ENST00000554884.5:n.314G>C
ENST00000556404.1:n.456G>C
ENST00000556851.1:n.358G>C
ENST00000557675.5:n.412G>C
NM_013382.5:c.1322G>C , LRG_844t1:c.1322G>C NP_037514.2:p.Gly441Ala
XM_011536675.1:c.1322G>C XP_011534977.1:p.Gly441Ala
XM_011536676.1:c.989G>C XP_011534978.1:p.Gly330Ala
XM_011536677.1:c.863G>C XP_011534979.1:p.Gly288Ala
XM_011536678.1:c.1322G>C XP_011534980.1:p.Gly441Ala
XM_011536679.1:c.416G>C XP_011534981.1:p.Gly139Ala
XR_943416.1:n.1525G>C
XM_011536675.2:c.1322G>C XP_011534977.1:p.Gly441Ala
XM_011536676.2:c.989G>C XP_011534978.1:p.Gly330Ala
XM_011536677.3:c.863G>C XP_011534979.1:p.Gly288Ala
XR_001750279.1:n.1522G>C
XR_001750282.1:n.1975G>C
XR_943416.3:n.1523G>C
NM_013382.6:c.1322G>C NP_037514.2:p.Gly441Ala
NM_013382.7:c.1322G>C MANE Select NP_037514.2:p.Gly441Ala