Canonical Allele Identifier: CA390517652
Gene: POMT2 HGNC NCBI

Linked Data

dbSNP Id: rs1890438583

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000556394.2:c.863G>T ENSP00000451967.2:p.Gly288Val
ENST00000682247.1:c.1322G>T ENSP00000507213.1:p.Gly441Val
ENST00000682382.1:c.894G>T
ENST00000682395.1:n.1500G>T
ENST00000682459.1:n.1025G>T
ENST00000682467.1:c.1322G>T ENSP00000508062.1:p.Gly441Val
ENST00000682706.1:n.99G>T
ENST00000682795.1:c.1322G>T ENSP00000507574.1:p.Gly441Val
ENST00000682895.1:n.1038G>T
ENST00000682955.1:n.610G>T
ENST00000683188.1:c.1297G>T
ENST00000683328.1:c.315G>T ENSP00000508096.1:n.315G>T
ENST00000683380.1:n.986G>T
ENST00000683828.1:c.1031G>T
ENST00000684259.1:n.1173G>T
ENST00000684444.1:c.69G>T
ENST00000684549.1:n.873G>T
ENST00000261534.9:c.1322G>T MANE Select ENSP00000261534.4:p.Gly441Val
ENST00000261534.8:c.1322G>T ENSP00000261534.4:p.Gly441Val
ENST00000452340.7:n.1345G>T
ENST00000553880.5:n.193G>T
ENST00000554767.5:n.2108G>T
ENST00000554884.5:n.314G>T
ENST00000556404.1:n.456G>T
ENST00000556851.1:n.358G>T
ENST00000557675.5:n.412G>T
NM_013382.5:c.1322G>T , LRG_844t1:c.1322G>T NP_037514.2:p.Gly441Val
XM_011536675.1:c.1322G>T XP_011534977.1:p.Gly441Val
XM_011536676.1:c.989G>T XP_011534978.1:p.Gly330Val
XM_011536677.1:c.863G>T XP_011534979.1:p.Gly288Val
XM_011536678.1:c.1322G>T XP_011534980.1:p.Gly441Val
XM_011536679.1:c.416G>T XP_011534981.1:p.Gly139Val
XR_943416.1:n.1525G>T
XM_011536675.2:c.1322G>T XP_011534977.1:p.Gly441Val
XM_011536676.2:c.989G>T XP_011534978.1:p.Gly330Val
XM_011536677.3:c.863G>T XP_011534979.1:p.Gly288Val
XR_001750279.1:n.1522G>T
XR_001750282.1:n.1975G>T
XR_943416.3:n.1523G>T
NM_013382.6:c.1322G>T NP_037514.2:p.Gly441Val
NM_013382.7:c.1322G>T MANE Select NP_037514.2:p.Gly441Val