Canonical Allele Identifier: CA998630058
Gene: MAD2L2 HGNC NCBI

Linked Data

dbSNP Id: rs1640772820
gnomAD v3: 1-11676552-A-G
gnomAD v4: 1-11676552-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11676552A>G , CM000663.2:g.11676552A>G GRCh38
NC_000001.10:g.11736609A>G , CM000663.1:g.11736609A>G GRCh37
NC_000001.9:g.11659196A>G NCBI36
NG_052907.1:g.20237T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000376664.11:n.447+296T>C
ENST00000456915.2:c.332+296T>C ENSP00000400982.2:n.332+296T>C
ENST00000697273.1:c.*151+296T>C ENSP00000513220.1:n.*151+296T>C
ENST00000697274.1:c.332+296T>C ENSP00000513221.1:n.332+296T>C
ENST00000376692.9:c.332+296T>C MANE Select ENSP00000365882.4:n.332+296T>C
ENST00000235310.7:c.332+296T>C ENSP00000235310.2:n.332+296T>C
ENST00000376664.10:n.417+296T>C
ENST00000376667.7:c.332+296T>C ENSP00000365855.3:n.332+296T>C
ENST00000376669.9:c.371+257T>C ENSP00000365857.5:n.371+257T>C
ENST00000376672.5:c.371+257T>C ENSP00000365860.1:n.371+257T>C
ENST00000376692.8:c.332+296T>C ENSP00000365882.4:n.332+296T>C
ENST00000445656.5:c.422+296T>C ENSP00000411807.1:n.422+296T>C
ENST00000456915.1:c.332+296T>C ENSP00000400982.1:n.332+296T>C
NM_001127325.1:c.332+296T>C NP_001120797.1:n.332+296T>C
NM_006341.3:c.332+296T>C NP_006332.3:n.332+296T>C
XM_011540507.1:c.332+296T>C XP_011538809.1:n.332+296T>C
XM_024450407.1:c.422+296T>C XP_024306175.1:n.422+296T>C
NM_006341.4:c.332+296T>C MANE Select NP_006332.3:n.332+296T>C
NM_001127325.2:c.332+296T>C NP_001120797.1:n.332+296T>C