Canonical Allele Identifier: CA260727531

Gene: MDGA2

Linked Data

• dbSNP Id: rs894260522
• gnomAD v3: 14-47618230-A-C
• gnomAD v4: 14-47618230-A-C
• MyVariant Identifiers: chr14:g.48087433A>C (hg19) ; chr14:g.47618230A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.47618230A>C , CM000676.2:g.47618230A>C	GRCh38
NC_000014.8:g.48087433A>C , CM000676.1:g.48087433A>C	GRCh37
NC_000014.7:g.47157183A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399232.8:c.280+56287T>G MANE Select	ENSP00000382178.4:n.280+56287T>G
ENST00000399232.6:c.73+56287T>G	ENSP00000382178.3:n.73+56287T>G
ENST00000557238.5:c.-615+8109T>G	ENSP00000452593.1:n.-615+8109T>G
NM_001113498.2:c.73+56287T>G	NP_001106970.3:n.73+56287T>G
XM_011536520.1:c.280+56287T>G	XP_011534822.1:n.280+56287T>G
XM_011536521.1:c.280+56287T>G	XP_011534823.1:n.280+56287T>G
XM_011536522.1:c.280+56287T>G	XP_011534824.1:n.280+56287T>G
XM_011536523.1:c.280+56287T>G	XP_011534825.1:n.280+56287T>G
XM_011536522.3:c.280+56287T>G	XP_011534824.1:n.280+56287T>G
XM_017021061.2:c.280+56287T>G	XP_016876550.1:n.280+56287T>G
XR_001750175.2:n.800+56287T>G
NM_001113498.3:c.280+56287T>G MANE Select	NP_001106970.4:n.280+56287T>G