Canonical Allele Identifier: CA2523806778

Gene: MDGA2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.47571133C>T , CM000676.2:g.47571133C>T	GRCh38
NC_000014.8:g.48040336C>T , CM000676.1:g.48040336C>T	GRCh37
NC_000014.7:g.47110086C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000399232.8:c.280+103384G>A MANE Select	ENSP00000382178.4:n.280+103384G>A
ENST00000399232.6:c.73+103384G>A	ENSP00000382178.3:n.73+103384G>A
ENST00000557238.5:c.-615+55206G>A	ENSP00000452593.1:n.-615+55206G>A
NM_001113498.2:c.73+103384G>A	NP_001106970.3:n.73+103384G>A
XM_011536520.1:c.280+103384G>A	XP_011534822.1:n.280+103384G>A
XM_011536521.1:c.280+103384G>A	XP_011534823.1:n.280+103384G>A
XM_011536522.1:c.280+103384G>A	XP_011534824.1:n.280+103384G>A
XM_011536523.1:c.280+103384G>A	XP_011534825.1:n.280+103384G>A
XM_011536522.3:c.280+103384G>A	XP_011534824.1:n.280+103384G>A
XM_017021061.2:c.280+103384G>A	XP_016876550.1:n.280+103384G>A
XR_001750175.2:n.800+103384G>A
NM_001113498.3:c.280+103384G>A MANE Select	NP_001106970.4:n.280+103384G>A