Canonical Allele Identifier: CA3206688169

Gene: MDGA2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.47546779A>G , CM000676.2:g.47546779A>G	GRCh38
NC_000014.8:g.48015982A>G , CM000676.1:g.48015982A>G	GRCh37
NC_000014.7:g.47085732A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001113498.3:c.280+127738T>C MANE Select	NP_001106970.4:n.280+127738T>C
ENST00000399232.8:c.280+127738T>C MANE Select	ENSP00000382178.4:n.280+127738T>C
NM_001113498.2:c.73+127738T>C	NP_001106970.3:n.73+127738T>C
ENST00000399232.6:c.73+127738T>C	ENSP00000382178.3:n.73+127738T>C
ENST00000557238.5:c.-615+79560T>C	ENSP00000452593.1:n.-615+79560T>C
XM_011536520.1:c.280+127738T>C	XP_011534822.1:n.280+127738T>C
XM_011536521.1:c.280+127738T>C	XP_011534823.1:n.280+127738T>C
XM_011536522.1:c.280+127738T>C	XP_011534824.1:n.280+127738T>C
XM_011536522.3:c.280+127738T>C	XP_011534824.1:n.280+127738T>C
XM_011536523.1:c.280+127738T>C	XP_011534825.1:n.280+127738T>C
XM_017021061.2:c.280+127738T>C	XP_016876550.1:n.280+127738T>C
XR_001750175.2:n.800+127738T>C