Canonical Allele Identifier: CA998630037

Gene: MAD2L2

Linked Data

• dbSNP Id: rs1640772043
• gnomAD v3: 1-11676499-T-C
• gnomAD v4: 1-11676499-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11676499T>C , CM000663.2:g.11676499T>C	GRCh38
NC_000001.10:g.11736556T>C , CM000663.1:g.11736556T>C	GRCh37
NC_000001.9:g.11659143T>C	NCBI36
NG_052907.1:g.20290A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000376664.11:n.447+349A>G
ENST00000456915.2:c.332+349A>G	ENSP00000400982.2:n.332+349A>G
ENST00000697273.1:c.*151+349A>G	ENSP00000513220.1:n.*151+349A>G
ENST00000697274.1:c.332+349A>G	ENSP00000513221.1:n.332+349A>G
ENST00000376692.9:c.332+349A>G MANE Select	ENSP00000365882.4:n.332+349A>G
ENST00000235310.7:c.332+349A>G	ENSP00000235310.2:n.332+349A>G
ENST00000376664.10:n.417+349A>G
ENST00000376667.7:c.332+349A>G	ENSP00000365855.3:n.332+349A>G
ENST00000376669.9:c.371+310A>G	ENSP00000365857.5:n.371+310A>G
ENST00000376672.5:c.371+310A>G	ENSP00000365860.1:n.371+310A>G
ENST00000376692.8:c.332+349A>G	ENSP00000365882.4:n.332+349A>G
ENST00000445656.5:c.422+349A>G	ENSP00000411807.1:n.422+349A>G
ENST00000456915.1:c.332+349A>G	ENSP00000400982.1:n.332+349A>G
NM_001127325.1:c.332+349A>G	NP_001120797.1:n.332+349A>G
NM_006341.3:c.332+349A>G	NP_006332.3:n.332+349A>G
XM_011540507.1:c.332+349A>G	XP_011538809.1:n.332+349A>G
XM_024450407.1:c.422+349A>G	XP_024306175.1:n.422+349A>G
NM_006341.4:c.332+349A>G MANE Select	NP_006332.3:n.332+349A>G
NM_001127325.2:c.332+349A>G	NP_001120797.1:n.332+349A>G