Canonical Allele Identifier: CA1778652

Gene: SNRNP200

Linked Data

• ClinVar Variation Id: 337551
• ClinVar RCV Id: RCV000284209 ; RCV001861159
• dbSNP Id: rs140087655
• ExAC: 2:96956141 T / C
• gnomAD v2: 2-96956141-T-C
• gnomAD v3: 2-96290403-T-C
• gnomAD v4: 2-96290403-T-C
• MyVariant Identifiers: chr2:g.96956141T>C (hg19) ; chr2:g.96290403T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96290403T>C , CM000664.2:g.96290403T>C	GRCh38
NC_000002.11:g.96956141T>C , CM000664.1:g.96956141T>C	GRCh37
NC_000002.10:g.96319868T>C	NCBI36
NG_016973.1:g.20157A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323853.10:c.2665A>G MANE Select	ENSP00000317123.5:p.Ile889Val
ENST00000652267.1:c.2665A>G	ENSP00000498933.1:p.Ile889Val
ENST00000323853.9:c.2665A>G	ENSP00000317123.5:p.Ile889Val
NM_014014.4:c.2665A>G	NP_054733.2:p.Ile889Val
NM_014014.5:c.2665A>G MANE Select	NP_054733.2:p.Ile889Val