Canonical Allele Identifier: CA13936873

Gene: MDGA2

Linked Data

• dbSNP Id: rs2416054
• gnomAD v2: 14-47824521-C-T
• gnomAD v3: 14-47355318-C-T
• gnomAD v4: 14-47355318-C-T
• MyVariant Identifiers: chr14:g.47824521C>T (hg19) ; chr14:g.47355318C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.47355318C>T , CM000676.2:g.47355318C>T	GRCh38
NC_000014.8:g.47824521C>T , CM000676.1:g.47824521C>T	GRCh37
NC_000014.7:g.46894271C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000399232.8:c.281-53768G>A MANE Select	ENSP00000382178.4:n.281-53768G>A
ENST00000399232.6:c.74-53768G>A	ENSP00000382178.3:n.74-53768G>A
ENST00000557238.5:c.-614-53768G>A	ENSP00000452593.1:n.-614-53768G>A
NM_001113498.2:c.74-53768G>A	NP_001106970.3:n.74-53768G>A
XM_011536520.1:c.281-53768G>A	XP_011534822.1:n.281-53768G>A
XM_011536521.1:c.281-53768G>A	XP_011534823.1:n.281-53768G>A
XM_011536522.1:c.281-53768G>A	XP_011534824.1:n.281-53768G>A
XM_011536523.1:c.281-53768G>A	XP_011534825.1:n.281-53768G>A
XM_011536522.3:c.281-53768G>A	XP_011534824.1:n.281-53768G>A
XM_017021061.2:c.281-53768G>A	XP_016876550.1:n.281-53768G>A
XR_001750175.2:n.801-53768G>A
NM_001113498.3:c.281-53768G>A MANE Select	NP_001106970.4:n.281-53768G>A