Canonical Allele Identifier: CA390517650
Gene: POMT2 HGNC NCBI

Linked Data

dbSNP Id: rs758863296

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77286752A>C , CM000676.2:g.77286752A>C GRCh38
NC_000014.8:g.77753095A>C , CM000676.1:g.77753095A>C GRCh37
NC_000014.7:g.76822848A>C NCBI36
NG_008897.1:g.39131T>G , LRG_844:g.39131T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000556394.2:c.865T>G ENSP00000451967.2:p.Tyr289Asp
ENST00000682247.1:c.1324T>G ENSP00000507213.1:p.Tyr442Asp
ENST00000682382.1:c.896T>G
ENST00000682395.1:n.1502T>G
ENST00000682459.1:n.1027T>G
ENST00000682467.1:c.1324T>G ENSP00000508062.1:p.Tyr442Asp
ENST00000682706.1:n.101T>G
ENST00000682795.1:c.1324T>G ENSP00000507574.1:p.Tyr442Asp
ENST00000682895.1:n.1040T>G
ENST00000682955.1:n.612T>G
ENST00000683188.1:c.1299T>G
ENST00000683328.1:c.317T>G ENSP00000508096.1:n.317T>G
ENST00000683380.1:n.988T>G
ENST00000683828.1:c.1033T>G
ENST00000684259.1:n.1175T>G
ENST00000684444.1:c.71T>G
ENST00000684549.1:n.875T>G
ENST00000261534.9:c.1324T>G MANE Select ENSP00000261534.4:p.Tyr442Asp
ENST00000261534.8:c.1324T>G ENSP00000261534.4:p.Tyr442Asp
ENST00000452340.7:n.1347T>G
ENST00000553880.5:n.195T>G
ENST00000554767.5:n.2110T>G
ENST00000554884.5:n.316T>G
ENST00000556404.1:n.458T>G
ENST00000556851.1:n.360T>G
ENST00000557675.5:n.414T>G
NM_013382.5:c.1324T>G , LRG_844t1:c.1324T>G NP_037514.2:p.Tyr442Asp
XM_011536675.1:c.1324T>G XP_011534977.1:p.Tyr442Asp
XM_011536676.1:c.991T>G XP_011534978.1:p.Tyr331Asp
XM_011536677.1:c.865T>G XP_011534979.1:p.Tyr289Asp
XM_011536678.1:c.1324T>G XP_011534980.1:p.Tyr442Asp
XM_011536679.1:c.418T>G XP_011534981.1:p.Tyr140Asp
XR_943416.1:n.1527T>G
XM_011536675.2:c.1324T>G XP_011534977.1:p.Tyr442Asp
XM_011536676.2:c.991T>G XP_011534978.1:p.Tyr331Asp
XM_011536677.3:c.865T>G XP_011534979.1:p.Tyr289Asp
XR_001750279.1:n.1524T>G
XR_001750282.1:n.1977T>G
XR_943416.3:n.1525T>G
NM_013382.6:c.1324T>G NP_037514.2:p.Tyr442Asp
NM_013382.7:c.1324T>G MANE Select NP_037514.2:p.Tyr442Asp