Canonical Allele Identifier: CA14234842

Gene: CTU2

Linked Data

• dbSNP Id: rs8052560
• gnomAD v2: 16-88777242-C-A
• gnomAD v3: 16-88710834-C-A
• gnomAD v4: 16-88710834-C-A
• MyVariant Identifiers: chr16:g.88777242C>A (hg19) ; chr16:g.88710834C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88710834C>A , CM000678.2:g.88710834C>A	GRCh38
NC_000016.9:g.88777242C>A , CM000678.1:g.88777242C>A	GRCh37
NC_000016.8:g.87304743C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000453996.7:c.282+552C>A MANE Select	ENSP00000388320.2:n.282+552C>A
ENST00000312060.9:c.282+552C>A	ENSP00000308617.5:n.282+552C>A
ENST00000453996.6:c.282+552C>A	ENSP00000388320.2:n.282+552C>A
ENST00000564105.5:c.203+552C>A	ENSP00000454923.1:n.203+552C>A
ENST00000564921.1:c.99+552C>A	ENSP00000455010.1:n.99+552C>A
ENST00000565071.1:n.820C>A
ENST00000566637.5:n.118+552C>A
ENST00000567949.5:c.282+552C>A	ENSP00000456908.1:n.282+552C>A
NM_001012759.1:c.282+552C>A	NP_001012777.1:n.282+552C>A
NM_001012762.1:c.282+552C>A	NP_001012780.1:n.282+552C>A
XM_011523068.1:c.21+552C>A	XP_011521370.1:n.21+552C>A
NM_001012759.2:c.282+552C>A	NP_001012777.1:n.282+552C>A
NM_001012762.2:c.282+552C>A	NP_001012780.1:n.282+552C>A
NM_001318507.1:c.282+552C>A	NP_001305436.1:n.282+552C>A
NM_001318513.1:c.21+552C>A	NP_001305442.1:n.21+552C>A
XM_017023210.2:c.-147+552C>A	XP_016878699.1:n.-147+552C>A
NM_001012759.3:c.282+552C>A MANE Select	NP_001012777.1:n.282+552C>A
NM_001012762.3:c.282+552C>A	NP_001012780.1:n.282+552C>A
NM_001318507.2:c.282+552C>A	NP_001305436.1:n.282+552C>A
NM_001318513.2:c.21+552C>A	NP_001305442.1:n.21+552C>A