Canonical Allele Identifier: CA1779267

Gene: SNRNP200

Linked Data

• ClinVar Variation Id: 337569
• ClinVar RCV Id: RCV000280276 ; RCV000921234
• dbSNP Id: rs373701482
• ExAC: 2:96970613 A / G
• gnomAD v2: 2-96970613-A-G
• gnomAD v3: 2-96304875-A-G
• gnomAD v4: 2-96304875-A-G
• MyVariant Identifiers: chr2:g.96970613A>G (hg19) ; chr2:g.96304875A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96304875A>G , CM000664.2:g.96304875A>G	GRCh38
NC_000002.11:g.96970613A>G , CM000664.1:g.96970613A>G	GRCh37
NC_000002.10:g.96334340A>G	NCBI36
NG_016973.1:g.5685T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323853.10:c.46-7T>C MANE Select	ENSP00000317123.5:n.46-7T>C
ENST00000652267.1:c.46-7T>C	ENSP00000498933.1:n.46-7T>C
ENST00000323853.9:c.46-7T>C	ENSP00000317123.5:n.46-7T>C
NM_014014.4:c.46-7T>C	NP_054733.2:n.46-7T>C
NM_014014.5:c.46-7T>C MANE Select	NP_054733.2:n.46-7T>C