Canonical Allele Identifier: CA614077880

Gene: MDGA2

Linked Data

• dbSNP Id: rs185820213
• gnomAD v2: 14-47685884-C-A
• gnomAD v3: 14-47216681-C-A
• gnomAD v4: 14-47216681-C-A
• MyVariant Identifiers: chr14:g.47685884C>A (hg19) ; chr14:g.47216681C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.47216681C>A , CM000676.2:g.47216681C>A	GRCh38
NC_000014.8:g.47685884C>A , CM000676.1:g.47685884C>A	GRCh37
NC_000014.7:g.46755634C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000399232.8:c.595+1340G>T MANE Select	ENSP00000382178.4:n.595+1340G>T
ENST00000426342.7:c.-3+1340G>T	ENSP00000405456.4:n.-3+1340G>T
ENST00000357362.7:c.-300+1340G>T	ENSP00000349925.3:n.-300+1340G>T
ENST00000399232.6:c.388+1340G>T	ENSP00000382178.3:n.388+1340G>T
ENST00000426342.5:c.-3+1340G>T	ENSP00000405456.2:n.-3+1340G>T
ENST00000482848.7:c.-300+1340G>T	ENSP00000434991.2:n.-300+1340G>T
ENST00000557238.5:c.-300+1340G>T	ENSP00000452593.1:n.-300+1340G>T
NM_001113498.2:c.388+1340G>T	NP_001106970.3:n.388+1340G>T
NM_182830.4:c.-300+1340G>T	NP_878250.2:n.-300+1340G>T
NR_103766.1:n.459+1340G>T
XM_011536519.1:c.460+1340G>T	XP_011534821.1:n.460+1340G>T
XM_011536520.1:c.595+1340G>T	XP_011534822.1:n.595+1340G>T
XM_011536521.1:c.595+1340G>T	XP_011534823.1:n.595+1340G>T
XM_011536522.1:c.595+1340G>T	XP_011534824.1:n.595+1340G>T
XM_011536523.1:c.595+1340G>T	XP_011534825.1:n.595+1340G>T
XM_011536519.2:c.460+1340G>T	XP_011534821.1:n.460+1340G>T
XM_011536522.3:c.595+1340G>T	XP_011534824.1:n.595+1340G>T
XM_017021061.2:c.595+1340G>T	XP_016876550.1:n.595+1340G>T
XR_001750175.2:n.1115+1340G>T
NM_001113498.3:c.595+1340G>T MANE Select	NP_001106970.4:n.595+1340G>T
NR_103766.2:n.459+1340G>T