Canonical Allele Identifier: CA962812237

Gene: MDGA2

Linked Data

• dbSNP Id: rs1594946205
• gnomAD v3: 14-47618242-G-A
• gnomAD v4: 14-47618242-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.47618242G>A , CM000676.2:g.47618242G>A	GRCh38
NC_000014.8:g.48087445G>A , CM000676.1:g.48087445G>A	GRCh37
NC_000014.7:g.47157195G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399232.8:c.280+56275C>T MANE Select	ENSP00000382178.4:n.280+56275C>T
ENST00000399232.6:c.73+56275C>T	ENSP00000382178.3:n.73+56275C>T
ENST00000557238.5:c.-615+8097C>T	ENSP00000452593.1:n.-615+8097C>T
NM_001113498.2:c.73+56275C>T	NP_001106970.3:n.73+56275C>T
XM_011536520.1:c.280+56275C>T	XP_011534822.1:n.280+56275C>T
XM_011536521.1:c.280+56275C>T	XP_011534823.1:n.280+56275C>T
XM_011536522.1:c.280+56275C>T	XP_011534824.1:n.280+56275C>T
XM_011536523.1:c.280+56275C>T	XP_011534825.1:n.280+56275C>T
XM_011536522.3:c.280+56275C>T	XP_011534824.1:n.280+56275C>T
XM_017021061.2:c.280+56275C>T	XP_016876550.1:n.280+56275C>T
XR_001750175.2:n.800+56275C>T
NM_001113498.3:c.280+56275C>T MANE Select	NP_001106970.4:n.280+56275C>T