Canonical Allele Identifier: CA1777843

Gene: SNRNP200

Linked Data

• ClinVar Variation Id: 337527
• ClinVar RCV Id: RCV000263386 ; RCV003888808
• dbSNP Id: rs745836206
• ExAC: 2:96942886 G / A
• gnomAD v2: 2-96942886-G-A
• gnomAD v4: 2-96277148-G-A
• MyVariant Identifiers: chr2:g.96942886G>A (hg19) ; chr2:g.96277148G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96277148G>A , CM000664.2:g.96277148G>A	GRCh38
NC_000002.11:g.96942886G>A , CM000664.1:g.96942886G>A	GRCh37
NC_000002.10:g.96306613G>A	NCBI36
NG_016973.1:g.33412C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323853.10:c.6025C>T MANE Select	ENSP00000317123.5:p.Arg2009Cys
ENST00000323853.9:c.6025C>T	ENSP00000317123.5:p.Arg2009Cys
ENST00000429650.1:c.1606C>T	ENSP00000387870.1:p.Arg536Cys
ENST00000497539.5:n.1999C>T
NM_014014.4:c.6025C>T	NP_054733.2:p.Arg2009Cys
NM_014014.5:c.6025C>T MANE Select	NP_054733.2:p.Arg2009Cys