Canonical Allele Identifier: CA161048111
Gene: MAGI2 HGNC NCBI

Linked Data

dbSNP Id: rs113527903
gnomAD v2: 7-77838510-C-G
gnomAD v3: 7-78209193-C-G
gnomAD v4: 7-78209193-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.78209193C>G , CM000669.2:g.78209193C>G GRCh38
NC_000007.13:g.77838510C>G , CM000669.1:g.77838510C>G GRCh37
NC_000007.12:g.77676446C>G NCBI36
NG_011487.1:g.1249381G>C
NG_011487.2:g.1249382G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000354212.9:c.2048-8000G>C MANE Select ENSP00000346151.4:n.2048-8000G>C
ENST00000636178.1:c.1118-8000G>C ENSP00000489709.1:n.1118-8000G>C
ENST00000637282.1:c.875-8000G>C ENSP00000490637.1:n.875-8000G>C
ENST00000637441.1:c.2048-8000G>C ENSP00000489633.1:n.2048-8000G>C
ENST00000637486.1:c.*150-8000G>C ENSP00000490080.1:n.*150-8000G>C
ENST00000354212.8:c.2048-8000G>C ENSP00000346151.4:n.2048-8000G>C
ENST00000419488.5:c.2048-8000G>C ENSP00000405766.1:n.2048-8000G>C
ENST00000519748.5:c.875-8000G>C ENSP00000486774.1:n.875-8000G>C
ENST00000520379.2:n.1123-8000G>C
ENST00000522391.3:c.2048-8000G>C ENSP00000428389.1:n.2048-8000G>C
ENST00000535697.5:c.1634-8000G>C ENSP00000441603.3:n.1634-8000G>C
ENST00000626691.2:c.1559-8000G>C ENSP00000486131.1:n.1559-8000G>C
ENST00000628980.2:c.1634-8000G>C ENSP00000487526.1:n.1634-8000G>C
ENST00000629359.2:c.1559-8000G>C ENSP00000487448.1:n.1559-8000G>C
NM_001301128.1:c.2048-8000G>C NP_001288057.1:n.2048-8000G>C
NM_012301.3:c.2048-8000G>C NP_036433.2:n.2048-8000G>C
XM_011516718.1:c.2048-8000G>C XP_011515020.1:n.2048-8000G>C
XM_011516719.1:c.1688-8000G>C XP_011515021.1:n.1688-8000G>C
XM_011516720.1:c.1688-8000G>C XP_011515022.1:n.1688-8000G>C
XM_011516721.1:c.1559-8000G>C XP_011515023.1:n.1559-8000G>C
XM_011516722.1:c.1508-8000G>C XP_011515024.1:n.1508-8000G>C
XM_011516723.1:c.2048-8000G>C XP_011515025.1:n.2048-8000G>C
XM_011516724.1:c.2048-8000G>C XP_011515026.1:n.2048-8000G>C
XM_011516725.1:c.2048-8000G>C XP_011515027.1:n.2048-8000G>C
XM_011516726.1:c.1004-8000G>C XP_011515028.1:n.1004-8000G>C
XM_011516727.1:c.1004-8000G>C XP_011515029.1:n.1004-8000G>C
XM_011516728.1:c.875-8000G>C XP_011515030.1:n.875-8000G>C
XM_011516729.1:c.875-8000G>C XP_011515031.1:n.875-8000G>C
XR_927699.1:n.149-3160C>G
XM_011516718.2:c.2048-8000G>C XP_011515020.1:n.2048-8000G>C
XM_011516719.3:c.1688-8000G>C XP_011515021.1:n.1688-8000G>C
XM_011516720.3:c.1688-8000G>C XP_011515022.1:n.1688-8000G>C
XM_011516726.3:c.1004-8000G>C XP_011515028.1:n.1004-8000G>C
XM_017012840.2:c.2177-8000G>C XP_016868329.1:n.2177-8000G>C
XM_017012841.2:c.2174-8000G>C XP_016868330.1:n.2174-8000G>C
XM_017012842.2:c.2177-8000G>C XP_016868331.1:n.2177-8000G>C
XM_017012843.2:c.2177-8000G>C XP_016868332.1:n.2177-8000G>C
XM_017012844.2:c.2177-8000G>C XP_016868333.1:n.2177-8000G>C
XM_017012845.2:c.2048-8000G>C XP_016868334.1:n.2048-8000G>C
XM_017012846.2:c.2048-8000G>C XP_016868335.1:n.2048-8000G>C
XM_017012847.2:c.1688-8000G>C XP_016868336.1:n.1688-8000G>C
XM_017012848.2:c.1559-8000G>C XP_016868337.1:n.1559-8000G>C
XM_017012849.2:c.1559-8000G>C XP_016868338.1:n.1559-8000G>C
XM_017012850.2:c.2177-8000G>C XP_016868339.1:n.2177-8000G>C
XM_017012851.2:c.2177-8000G>C XP_016868340.1:n.2177-8000G>C
XM_017012852.2:c.2177-8000G>C XP_016868341.1:n.2177-8000G>C
XM_024447009.1:c.1688-8000G>C XP_024302777.1:n.1688-8000G>C
NM_012301.4:c.2048-8000G>C MANE Select NP_036433.2:n.2048-8000G>C
NM_001301128.2:c.2048-8000G>C NP_001288057.1:n.2048-8000G>C