Canonical Allele Identifier: CA1777851

Gene: SNRNP200

Linked Data

• ClinVar Variation Id: 337529
• ClinVar RCV Id: RCV000354769 ; RCV000899761 ; RCV003888809 ; RCV003932344
• dbSNP Id: rs754294342
• ExAC: 2:96942968 A / G
• gnomAD v2: 2-96942968-A-G
• gnomAD v3: 2-96277230-A-G
• gnomAD v4: 2-96277230-A-G
• MyVariant Identifiers: chr2:g.96942968A>G (hg19) ; chr2:g.96277230A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96277230A>G , CM000664.2:g.96277230A>G	GRCh38
NC_000002.11:g.96942968A>G , CM000664.1:g.96942968A>G	GRCh37
NC_000002.10:g.96306695A>G	NCBI36
NG_016973.1:g.33330T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323853.10:c.5943T>C MANE Select	ENSP00000317123.5:p.Ser1981=
ENST00000323853.9:c.5943T>C	ENSP00000317123.5:p.Ser1981=
ENST00000429650.1:c.1524T>C	ENSP00000387870.1:p.Ser508=
ENST00000497539.5:n.1917T>C
NM_014014.4:c.5943T>C	NP_054733.2:p.Ser1981=
NM_014014.5:c.5943T>C MANE Select	NP_054733.2:p.Ser1981=