Canonical Allele Identifier: CA299515375

Gene: RIT2

Linked Data

• dbSNP Id: rs149350528
• gnomAD v2: 18-40678255-G-A
• gnomAD v3: 18-43098290-G-A
• gnomAD v4: 18-43098290-G-A
• MyVariant Identifiers: chr18:g.40678255G>A (hg19) ; chr18:g.43098290G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.43098290G>A , CM000680.2:g.43098290G>A	GRCh38
NC_000018.9:g.40678255G>A , CM000680.1:g.40678255G>A	GRCh37
NC_000018.8:g.38932253G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326695.10:c.103+17127C>T MANE Select	ENSP00000321805.4:n.103+17127C>T
ENST00000650392.1:c.103+17127C>T	ENSP00000497708.1:n.103+17127C>T
ENST00000326695.9:c.103+17127C>T	ENSP00000321805.4:n.103+17127C>T
ENST00000589109.5:c.103+17127C>T	ENSP00000467217.1:n.103+17127C>T
ENST00000590910.1:c.103+17127C>T	ENSP00000466620.1:n.103+17127C>T
NM_001272077.1:c.103+17127C>T	NP_001259006.1:n.103+17127C>T
NM_002930.3:c.103+17127C>T	NP_002921.1:n.103+17127C>T
NM_002930.4:c.103+17127C>T MANE Select	NP_002921.1:n.103+17127C>T
NM_001272077.2:c.103+17127C>T	NP_001259006.1:n.103+17127C>T