Canonical Allele Identifier: CA706309841

Gene: MDGA2

Linked Data

• dbSNP Id: rs1212696601
• gnomAD v3: 14-47618055-TA-T
• gnomAD v4: 14-47618055-TA-T
• MyVariant Identifiers: chr14:g.48087259del (hg19) ; chr14:g.47618056del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.47618056del , CM000676.2:g.47618056del	GRCh38
NC_000014.8:g.48087259del , CM000676.1:g.48087259del	GRCh37
NC_000014.7:g.47157009del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399232.8:c.280+56461del MANE Select	ENSP00000382178.4:n.280+56461del
ENST00000399232.6:c.73+56461del	ENSP00000382178.3:n.73+56461del
ENST00000557238.5:c.-615+8283del	ENSP00000452593.1:n.-615+8283del
NM_001113498.2:c.73+56461del	NP_001106970.3:n.73+56461del
XM_011536520.1:c.280+56461del	XP_011534822.1:n.280+56461del
XM_011536521.1:c.280+56461del	XP_011534823.1:n.280+56461del
XM_011536522.1:c.280+56461del	XP_011534824.1:n.280+56461del
XM_011536523.1:c.280+56461del	XP_011534825.1:n.280+56461del
XM_011536522.3:c.280+56461del	XP_011534824.1:n.280+56461del
XM_017021061.2:c.280+56461del	XP_016876550.1:n.280+56461del
XR_001750175.2:n.800+56461del
NM_001113498.3:c.280+56461del MANE Select	NP_001106970.4:n.280+56461del