Canonical Allele Identifier: CA521182347

Gene: MAD2L2

Linked Data

• dbSNP Id: rs1211408517
• gnomAD v2: 1-11736628-G-C
• gnomAD v3: 1-11676571-G-C
• gnomAD v4: 1-11676571-G-C
• MyVariant Identifiers: chr1:g.11736628G>C (hg19) ; chr1:g.11676571G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11676571G>C , CM000663.2:g.11676571G>C	GRCh38
NC_000001.10:g.11736628G>C , CM000663.1:g.11736628G>C	GRCh37
NC_000001.9:g.11659215G>C	NCBI36
NG_052907.1:g.20218C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000376664.11:n.447+277C>G
ENST00000456915.2:c.332+277C>G	ENSP00000400982.2:n.332+277C>G
ENST00000697273.1:c.*151+277C>G	ENSP00000513220.1:n.*151+277C>G
ENST00000697274.1:c.332+277C>G	ENSP00000513221.1:n.332+277C>G
ENST00000376692.9:c.332+277C>G MANE Select	ENSP00000365882.4:n.332+277C>G
ENST00000235310.7:c.332+277C>G	ENSP00000235310.2:n.332+277C>G
ENST00000376664.10:n.417+277C>G
ENST00000376667.7:c.332+277C>G	ENSP00000365855.3:n.332+277C>G
ENST00000376669.9:c.371+238C>G	ENSP00000365857.5:n.371+238C>G
ENST00000376672.5:c.371+238C>G	ENSP00000365860.1:n.371+238C>G
ENST00000376692.8:c.332+277C>G	ENSP00000365882.4:n.332+277C>G
ENST00000445656.5:c.422+277C>G	ENSP00000411807.1:n.422+277C>G
ENST00000456915.1:c.332+277C>G	ENSP00000400982.1:n.332+277C>G
NM_001127325.1:c.332+277C>G	NP_001120797.1:n.332+277C>G
NM_006341.3:c.332+277C>G	NP_006332.3:n.332+277C>G
XM_011540507.1:c.332+277C>G	XP_011538809.1:n.332+277C>G
XM_024450407.1:c.422+277C>G	XP_024306175.1:n.422+277C>G
NM_006341.4:c.332+277C>G MANE Select	NP_006332.3:n.332+277C>G
NM_001127325.2:c.332+277C>G	NP_001120797.1:n.332+277C>G