Canonical Allele Identifier: CA2134629932

Gene: MDGA2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.47216783_47216796delinsTATTTAGTCAGGAA , CM000676.2:g.47216783_47216796delinsTATTTAGTCAGGAA	GRCh38
NC_000014.8:g.47685986_47685999delinsTATTTAGTCAGGAA , CM000676.1:g.47685986_47685999delinsTATTTAGTCAGGAA	GRCh37
NC_000014.7:g.46755736_46755749delinsTATTTAGTCAGGAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399232.8:c.595+1225_595+1238delinsTTCCTGACTAAATA MANE Select	ENSP00000382178.4:n.595+1225_595+1238delinsTTCCTGACTAAATA
ENST00000426342.7:c.-3+1225_-3+1238delinsTTCCTGACTAAATA	ENSP00000405456.4:n.-3+1225_-3+1238delinsTTCCTGACTAAATA
ENST00000357362.7:c.-300+1225_-300+1238delinsTTCCTGACTAAATA	ENSP00000349925.3:n.-300+1225_-300+1238delinsTTCCTGACTAAATA
ENST00000399232.6:c.388+1225_388+1238delinsTTCCTGACTAAATA	ENSP00000382178.3:n.388+1225_388+1238delinsTTCCTGACTAAATA
ENST00000426342.5:c.-3+1225_-3+1238delinsTTCCTGACTAAATA	ENSP00000405456.2:n.-3+1225_-3+1238delinsTTCCTGACTAAATA
ENST00000482848.7:c.-300+1225_-300+1238delinsTTCCTGACTAAATA	ENSP00000434991.2:n.-300+1225_-300+1238delinsTTCCTGACTAAATA
ENST00000557238.5:c.-300+1225_-300+1238delinsTTCCTGACTAAATA	ENSP00000452593.1:n.-300+1225_-300+1238delinsTTCCTGACTAAATA
NM_001113498.2:c.388+1225_388+1238delinsTTCCTGACTAAATA	NP_001106970.3:n.388+1225_388+1238delinsTTCCTGACTAAATA
NM_182830.4:c.-300+1225_-300+1238delinsTTCCTGACTAAATA	NP_878250.2:n.-300+1225_-300+1238delinsTTCCTGACTAAATA
NR_103766.1:n.459+1225_459+1238delinsTTCCTGACTAAATA
XM_011536519.1:c.460+1225_460+1238delinsTTCCTGACTAAATA	XP_011534821.1:n.460+1225_460+1238delinsTTCCTGACTAAATA
XM_011536520.1:c.595+1225_595+1238delinsTTCCTGACTAAATA	XP_011534822.1:n.595+1225_595+1238delinsTTCCTGACTAAATA
XM_011536521.1:c.595+1225_595+1238delinsTTCCTGACTAAATA	XP_011534823.1:n.595+1225_595+1238delinsTTCCTGACTAAATA
XM_011536522.1:c.595+1225_595+1238delinsTTCCTGACTAAATA	XP_011534824.1:n.595+1225_595+1238delinsTTCCTGACTAAATA
XM_011536523.1:c.595+1225_595+1238delinsTTCCTGACTAAATA	XP_011534825.1:n.595+1225_595+1238delinsTTCCTGACTAAATA
XM_011536519.2:c.460+1225_460+1238delinsTTCCTGACTAAATA	XP_011534821.1:n.460+1225_460+1238delinsTTCCTGACTAAATA
XM_011536522.3:c.595+1225_595+1238delinsTTCCTGACTAAATA	XP_011534824.1:n.595+1225_595+1238delinsTTCCTGACTAAATA
XM_017021061.2:c.595+1225_595+1238delinsTTCCTGACTAAATA	XP_016876550.1:n.595+1225_595+1238delinsTTCCTGACTAAATA
XR_001750175.2:n.1115+1225_1115+1238delinsTTCCTGACTAAATA
NM_001113498.3:c.595+1225_595+1238delinsTTCCTGACTAAATA MANE Select	NP_001106970.4:n.595+1225_595+1238delinsTTCCTGACTAAATA
NR_103766.2:n.459+1225_459+1238delinsTTCCTGACTAAATA