Canonical Allele Identifier: CA15939435

Gene: RIT2

Linked Data

• dbSNP Id: rs12456492
• gnomAD v2: 18-40673380-A-G
• gnomAD v3: 18-43093415-A-G
• gnomAD v4: 18-43093415-A-G
• MyVariant Identifiers: chr18:g.40673380A>G (hg19) ; chr18:g.43093415A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.43093415A>G , CM000680.2:g.43093415A>G	GRCh38
NC_000018.9:g.40673380A>G , CM000680.1:g.40673380A>G	GRCh37
NC_000018.8:g.38927378A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000326695.10:c.103+22002T>C MANE Select	ENSP00000321805.4:n.103+22002T>C
ENST00000650392.1:c.103+22002T>C	ENSP00000497708.1:n.103+22002T>C
ENST00000326695.9:c.103+22002T>C	ENSP00000321805.4:n.103+22002T>C
ENST00000589109.5:c.103+22002T>C	ENSP00000467217.1:n.103+22002T>C
ENST00000590910.1:c.103+22002T>C	ENSP00000466620.1:n.103+22002T>C
NM_001272077.1:c.103+22002T>C	NP_001259006.1:n.103+22002T>C
NM_002930.3:c.103+22002T>C	NP_002921.1:n.103+22002T>C
NM_002930.4:c.103+22002T>C MANE Select	NP_002921.1:n.103+22002T>C
NM_001272077.2:c.103+22002T>C	NP_001259006.1:n.103+22002T>C