Canonical Allele Identifier: CA148615
Gene: SNRNP200 HGNC NCBI

Linked Data

ClinVar Variation Id: 95552
ClinVar RCV Id: RCV000081583 RCV000953243 RCV000986789
dbSNP Id: rs143898031
ExAC: 2:96950323 C / T
gnomAD v2: 2-96950323-C-T
gnomAD v3: 2-96284585-C-T
gnomAD v4: 2-96284585-C-T
MyVariant Identifiers: chr2:g.96950323C>T (hg19) chr2:g.96284585C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96284585C>T , CM000664.2:g.96284585C>T GRCh38
NC_000002.11:g.96950323C>T , CM000664.1:g.96950323C>T GRCh37
NC_000002.10:g.96314050C>T NCBI36
NG_016973.1:g.25975G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000323853.10:c.4165G>A MANE Select ENSP00000317123.5:p.Val1389Ile
ENST00000323853.9:c.4165G>A ENSP00000317123.5:p.Val1389Ile
ENST00000429650.1:c.-191-64G>A ENSP00000387870.1:n.-191-64G>A
ENST00000480242.1:n.290G>A
ENST00000497539.5:n.139G>A
NM_014014.4:c.4165G>A NP_054733.2:p.Val1389Ile
NM_014014.5:c.4165G>A MANE Select NP_054733.2:p.Val1389Ile
Search 100 bp 5'
Search 100 bp 3'