Canonical Allele Identifier: CA1778766
Gene: SNRNP200 HGNC NCBI

Linked Data

ClinVar Variation Id: 1131042
ClinVar RCV Id: RCV001464759
dbSNP Id: rs534022491
ExAC: 2:96958702 G / T
gnomAD v2: 2-96958702-G-T
gnomAD v3: 2-96292964-G-T
gnomAD v4: 2-96292964-G-T
MyVariant Identifiers: chr2:g.96958702G>T (hg19) chr2:g.96292964G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96292964G>T , CM000664.2:g.96292964G>T GRCh38
NC_000002.11:g.96958702G>T , CM000664.1:g.96958702G>T GRCh37
NC_000002.10:g.96322429G>T NCBI36
NG_016973.1:g.17596C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000323853.10:c.2160+8C>A MANE Select ENSP00000317123.5:n.2160+8C>A
ENST00000652267.1:c.2160+8C>A ENSP00000498933.1:n.2160+8C>A
ENST00000323853.9:c.2160+8C>A ENSP00000317123.5:n.2160+8C>A
NM_014014.4:c.2160+8C>A NP_054733.2:n.2160+8C>A
NM_014014.5:c.2160+8C>A MANE Select NP_054733.2:n.2160+8C>A
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