Canonical Allele Identifier: CA299487356

Gene: RIT2

Linked Data

• dbSNP Id: rs189498523
• gnomAD v3: 18-42857700-T-C
• gnomAD v4: 18-42857700-T-C
• MyVariant Identifiers: chr18:g.40437665T>C (hg19) ; chr18:g.42857700T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.42857700T>C , CM000680.2:g.42857700T>C	GRCh38
NC_000018.9:g.40437665T>C , CM000680.1:g.40437665T>C	GRCh37
NC_000018.8:g.38691663T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000326695.10:c.426+65872A>G MANE Select	ENSP00000321805.4:n.426+65872A>G
ENST00000650392.1:c.*56-12531A>G	ENSP00000497708.1:n.*56-12531A>G
ENST00000326695.9:c.426+65872A>G	ENSP00000321805.4:n.426+65872A>G
ENST00000589109.5:c.*28+62997A>G	ENSP00000467217.1:n.*28+62997A>G
ENST00000590910.1:c.488+65872A>G	ENSP00000466620.1:n.488+65872A>G
NM_001272077.1:c.*28+62997A>G	NP_001259006.1:n.*28+62997A>G
NM_002930.3:c.426+65872A>G	NP_002921.1:n.426+65872A>G
NM_002930.4:c.426+65872A>G MANE Select	NP_002921.1:n.426+65872A>G
NM_001272077.2:c.*28+62997A>G	NP_001259006.1:n.*28+62997A>G