Canonical Allele Identifier: CA2134798417

Gene: MDGA2

Linked Data

• dbSNP Id: rs1594923516

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.47571242A>C , CM000676.2:g.47571242A>C	GRCh38
NC_000014.8:g.48040445A>C , CM000676.1:g.48040445A>C	GRCh37
NC_000014.7:g.47110195A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399232.8:c.280+103275T>G MANE Select	ENSP00000382178.4:n.280+103275T>G
ENST00000399232.6:c.73+103275T>G	ENSP00000382178.3:n.73+103275T>G
ENST00000557238.5:c.-615+55097T>G	ENSP00000452593.1:n.-615+55097T>G
NM_001113498.2:c.73+103275T>G	NP_001106970.3:n.73+103275T>G
XM_011536520.1:c.280+103275T>G	XP_011534822.1:n.280+103275T>G
XM_011536521.1:c.280+103275T>G	XP_011534823.1:n.280+103275T>G
XM_011536522.1:c.280+103275T>G	XP_011534824.1:n.280+103275T>G
XM_011536523.1:c.280+103275T>G	XP_011534825.1:n.280+103275T>G
XM_011536522.3:c.280+103275T>G	XP_011534824.1:n.280+103275T>G
XM_017021061.2:c.280+103275T>G	XP_016876550.1:n.280+103275T>G
XR_001750175.2:n.800+103275T>G
NM_001113498.3:c.280+103275T>G MANE Select	NP_001106970.4:n.280+103275T>G