Canonical Allele Identifier: CA1779172

Gene: SNRNP200

Linked Data

• ClinVar Variation Id: 337565
• ClinVar RCV Id: RCV000359788 ; RCV000901897
• dbSNP Id: rs145559167
• ExAC: 2:96967253 C / T
• gnomAD v2: 2-96967253-C-T
• gnomAD v3: 2-96301515-C-T
• gnomAD v4: 2-96301515-C-T
• COSMIC: COSM3664540 ; COSM3664541
• MyVariant Identifiers: chr2:g.96967253C>T (hg19) ; chr2:g.96301515C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96301515C>T , CM000664.2:g.96301515C>T	GRCh38
NC_000002.11:g.96967253C>T , CM000664.1:g.96967253C>T	GRCh37
NC_000002.10:g.96330980C>T	NCBI36
NG_016973.1:g.9045G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323853.10:c.574+9G>A MANE Select	ENSP00000317123.5:n.574+9G>A
ENST00000652267.1:c.574+9G>A	ENSP00000498933.1:n.574+9G>A
ENST00000323853.9:c.574+9G>A	ENSP00000317123.5:n.574+9G>A
NM_014014.4:c.574+9G>A	NP_054733.2:n.574+9G>A
NM_014014.5:c.574+9G>A MANE Select	NP_054733.2:n.574+9G>A