Canonical Allele Identifier: CA885981471
Gene: MAD2L2 HGNC NCBI

Linked Data

dbSNP Id: rs1198404880
gnomAD v3: 1-11676562-T-C
gnomAD v4: 1-11676562-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11676562T>C , CM000663.2:g.11676562T>C GRCh38
NC_000001.10:g.11736619T>C , CM000663.1:g.11736619T>C GRCh37
NC_000001.9:g.11659206T>C NCBI36
NG_052907.1:g.20227A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000376664.11:n.447+286A>G
ENST00000456915.2:c.332+286A>G ENSP00000400982.2:n.332+286A>G
ENST00000697273.1:c.*151+286A>G ENSP00000513220.1:n.*151+286A>G
ENST00000697274.1:c.332+286A>G ENSP00000513221.1:n.332+286A>G
ENST00000376692.9:c.332+286A>G MANE Select ENSP00000365882.4:n.332+286A>G
ENST00000235310.7:c.332+286A>G ENSP00000235310.2:n.332+286A>G
ENST00000376664.10:n.417+286A>G
ENST00000376667.7:c.332+286A>G ENSP00000365855.3:n.332+286A>G
ENST00000376669.9:c.371+247A>G ENSP00000365857.5:n.371+247A>G
ENST00000376672.5:c.371+247A>G ENSP00000365860.1:n.371+247A>G
ENST00000376692.8:c.332+286A>G ENSP00000365882.4:n.332+286A>G
ENST00000445656.5:c.422+286A>G ENSP00000411807.1:n.422+286A>G
ENST00000456915.1:c.332+286A>G ENSP00000400982.1:n.332+286A>G
NM_001127325.1:c.332+286A>G NP_001120797.1:n.332+286A>G
NM_006341.3:c.332+286A>G NP_006332.3:n.332+286A>G
XM_011540507.1:c.332+286A>G XP_011538809.1:n.332+286A>G
XM_024450407.1:c.422+286A>G XP_024306175.1:n.422+286A>G
NM_006341.4:c.332+286A>G MANE Select NP_006332.3:n.332+286A>G
NM_001127325.2:c.332+286A>G NP_001120797.1:n.332+286A>G