Canonical Allele Identifier: CA1778990

Gene: SNRNP200

Linked Data

• ClinVar Variation Id: 337558
• ClinVar RCV Id: RCV000404781 ; RCV001321090 ; RCV002519995 ; RCV003888812
• dbSNP Id: rs536493402
• ExAC: 2:96963430 C / T
• gnomAD v2: 2-96963430-C-T
• gnomAD v3: 2-96297692-C-T
• gnomAD v4: 2-96297692-C-T
• MyVariant Identifiers: chr2:g.96963430C>T (hg19) ; chr2:g.96297692C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96297692C>T , CM000664.2:g.96297692C>T	GRCh38
NC_000002.11:g.96963430C>T , CM000664.1:g.96963430C>T	GRCh37
NC_000002.10:g.96327157C>T	NCBI36
NG_016973.1:g.12868G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323853.10:c.1148G>A MANE Select	ENSP00000317123.5:p.Arg383His
ENST00000652267.1:c.1148G>A	ENSP00000498933.1:p.Arg383His
ENST00000323853.9:c.1148G>A	ENSP00000317123.5:p.Arg383His
NM_014014.4:c.1148G>A	NP_054733.2:p.Arg383His
NM_014014.5:c.1148G>A MANE Select	NP_054733.2:p.Arg383His