Canonical Allele Identifier: CA521182340

Gene: MAD2L2

Linked Data

• dbSNP Id: rs1303263306
• gnomAD v2: 1-11736544-C-T
• gnomAD v3: 1-11676487-C-T
• gnomAD v4: 1-11676487-C-T
• MyVariant Identifiers: chr1:g.11736544C>T (hg19) ; chr1:g.11676487C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11676487C>T , CM000663.2:g.11676487C>T	GRCh38
NC_000001.10:g.11736544C>T , CM000663.1:g.11736544C>T	GRCh37
NC_000001.9:g.11659131C>T	NCBI36
NG_052907.1:g.20302G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000376664.11:n.448-347G>A
ENST00000456915.2:c.333-347G>A	ENSP00000400982.2:n.333-347G>A
ENST00000697273.1:c.*152-347G>A	ENSP00000513220.1:n.*152-347G>A
ENST00000697274.1:c.333-347G>A	ENSP00000513221.1:n.333-347G>A
ENST00000376692.9:c.333-347G>A MANE Select	ENSP00000365882.4:n.333-347G>A
ENST00000235310.7:c.333-347G>A	ENSP00000235310.2:n.333-347G>A
ENST00000376664.10:n.418-347G>A
ENST00000376667.7:c.333-347G>A	ENSP00000365855.3:n.333-347G>A
ENST00000376669.9:c.371+322G>A	ENSP00000365857.5:n.371+322G>A
ENST00000376672.5:c.371+322G>A	ENSP00000365860.1:n.371+322G>A
ENST00000376692.8:c.333-347G>A	ENSP00000365882.4:n.333-347G>A
ENST00000445656.5:c.423-347G>A	ENSP00000411807.1:n.423-347G>A
ENST00000456915.1:c.333-347G>A	ENSP00000400982.1:n.333-347G>A
NM_001127325.1:c.333-347G>A	NP_001120797.1:n.333-347G>A
NM_006341.3:c.333-347G>A	NP_006332.3:n.333-347G>A
XM_011540507.1:c.333-347G>A	XP_011538809.1:n.333-347G>A
XM_024450407.1:c.423-347G>A	XP_024306175.1:n.423-347G>A
NM_006341.4:c.333-347G>A MANE Select	NP_006332.3:n.333-347G>A
NM_001127325.2:c.333-347G>A	NP_001120797.1:n.333-347G>A