Canonical Allele Identifier: CA390517677
Gene: POMT2 HGNC NCBI

Linked Data

dbSNP Id: rs1414932826

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77286766T>G , CM000676.2:g.77286766T>G GRCh38
NC_000014.8:g.77753109T>G , CM000676.1:g.77753109T>G GRCh37
NC_000014.7:g.76822862T>G NCBI36
NG_008897.1:g.39117A>C , LRG_844:g.39117A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000556394.2:c.851A>C ENSP00000451967.2:p.Tyr284Ser
ENST00000682247.1:c.1310A>C ENSP00000507213.1:p.Tyr437Ser
ENST00000682382.1:c.882A>C
ENST00000682395.1:n.1488A>C
ENST00000682459.1:n.1013A>C
ENST00000682467.1:c.1310A>C ENSP00000508062.1:p.Tyr437Ser
ENST00000682706.1:n.87A>C
ENST00000682795.1:c.1310A>C ENSP00000507574.1:p.Tyr437Ser
ENST00000682895.1:n.1026A>C
ENST00000682955.1:n.598A>C
ENST00000683188.1:c.1285A>C
ENST00000683328.1:c.303A>C ENSP00000508096.1:n.303A>C
ENST00000683380.1:n.974A>C
ENST00000683828.1:c.1019A>C
ENST00000684259.1:n.1161A>C
ENST00000684444.1:c.57A>C
ENST00000684549.1:n.861A>C
ENST00000261534.9:c.1310A>C MANE Select ENSP00000261534.4:p.Tyr437Ser
ENST00000261534.8:c.1310A>C ENSP00000261534.4:p.Tyr437Ser
ENST00000452340.7:n.1333A>C
ENST00000553880.5:n.181A>C
ENST00000554767.5:n.2096A>C
ENST00000554884.5:n.302A>C
ENST00000556404.1:n.444A>C
ENST00000556851.1:n.346A>C
ENST00000557675.5:n.400A>C
NM_013382.5:c.1310A>C , LRG_844t1:c.1310A>C NP_037514.2:p.Tyr437Ser
XM_011536675.1:c.1310A>C XP_011534977.1:p.Tyr437Ser
XM_011536676.1:c.977A>C XP_011534978.1:p.Tyr326Ser
XM_011536677.1:c.851A>C XP_011534979.1:p.Tyr284Ser
XM_011536678.1:c.1310A>C XP_011534980.1:p.Tyr437Ser
XM_011536679.1:c.404A>C XP_011534981.1:p.Tyr135Ser
XR_943416.1:n.1513A>C
XM_011536675.2:c.1310A>C XP_011534977.1:p.Tyr437Ser
XM_011536676.2:c.977A>C XP_011534978.1:p.Tyr326Ser
XM_011536677.3:c.851A>C XP_011534979.1:p.Tyr284Ser
XR_001750279.1:n.1510A>C
XR_001750282.1:n.1963A>C
XR_943416.3:n.1511A>C
NM_013382.6:c.1310A>C NP_037514.2:p.Tyr437Ser
NM_013382.7:c.1310A>C MANE Select NP_037514.2:p.Tyr437Ser