Canonical Allele Identifier: CA260502880
Gene: MDGA2 HGNC NCBI
dbSNP:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.47052286T>C , CM000676.2:g.47052286T>C GRCh38
NC_000014.8:g.47521489T>C , CM000676.1:g.47521489T>C GRCh37
NC_000014.7:g.46591239T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000399232.8:c.1525+8963A>G MANE Select ENSP00000382178.4:n.1525+8963A>G
ENST00000426342.7:c.928+8963A>G ENSP00000405456.4:n.928+8963A>G
ENST00000357362.7:c.631+8963A>G ENSP00000349925.3:n.631+8963A>G
ENST00000399232.6:c.1318+8963A>G ENSP00000382178.3:n.1318+8963A>G
ENST00000426342.5:c.928+8963A>G ENSP00000405456.2:n.928+8963A>G
ENST00000554762.5:c.641+8963A>G
ENST00000557238.5:c.631+8963A>G ENSP00000452593.1:n.631+8963A>G
NM_001113498.2:c.1318+8963A>G NP_001106970.3:n.1318+8963A>G
NM_182830.4:c.631+8963A>G NP_878250.2:n.631+8963A>G
XM_011536519.1:c.1390+8963A>G XP_011534821.1:n.1390+8963A>G
XM_011536520.1:c.1525+8963A>G XP_011534822.1:n.1525+8963A>G
XM_011536521.1:c.1525+8963A>G XP_011534823.1:n.1525+8963A>G
XM_011536522.1:c.1525+8963A>G XP_011534824.1:n.1525+8963A>G
XM_011536523.1:c.1525+8963A>G XP_011534825.1:n.1525+8963A>G
XM_011536524.1:c.163+8963A>G XP_011534826.1:n.163+8963A>G
XM_011536525.1:c.24+8963A>G XP_011534827.1:n.24+8963A>G
XM_011536519.2:c.1390+8963A>G XP_011534821.1:n.1390+8963A>G
XM_011536522.3:c.1525+8963A>G XP_011534824.1:n.1525+8963A>G
XM_011536525.2:c.24+8963A>G XP_011534827.1:n.24+8963A>G
XM_017021060.1:c.163+8963A>G XP_016876549.1:n.163+8963A>G
XM_017021061.2:c.*935A>G XP_016876550.1:n.*935A>G
XR_001750175.2:n.2045+8963A>G
NM_001113498.3:c.1525+8963A>G MANE Select NP_001106970.4:n.1525+8963A>G