Canonical Allele Identifier: CA52399621
Gene: SNRNP200 HGNC NCBI

Linked Data

dbSNP Id: rs566335000
gnomAD v3: 2-96292836-A-G
gnomAD v4: 2-96292836-A-G
MyVariant Identifiers: chr2:g.96958574A>G (hg19) chr2:g.96292836A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96292836A>G , CM000664.2:g.96292836A>G GRCh38
NC_000002.11:g.96958574A>G , CM000664.1:g.96958574A>G GRCh37
NC_000002.10:g.96322301A>G NCBI36
NG_016973.1:g.17724T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000323853.10:c.2160+136T>C MANE Select ENSP00000317123.5:n.2160+136T>C
ENST00000652267.1:c.2160+136T>C ENSP00000498933.1:n.2160+136T>C
ENST00000323853.9:c.2160+136T>C ENSP00000317123.5:n.2160+136T>C
NM_014014.4:c.2160+136T>C NP_054733.2:n.2160+136T>C
NM_014014.5:c.2160+136T>C MANE Select NP_054733.2:n.2160+136T>C
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