Canonical Allele Identifier: CA52399689
Gene: SNRNP200 HGNC NCBI

Linked Data

dbSNP Id: rs900282797
gnomAD v2: 2-96958652-G-C
gnomAD v3: 2-96292914-G-C
gnomAD v4: 2-96292914-G-C
MyVariant Identifiers: chr2:g.96958652G>C (hg19) chr2:g.96292914G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96292914G>C , CM000664.2:g.96292914G>C GRCh38
NC_000002.11:g.96958652G>C , CM000664.1:g.96958652G>C GRCh37
NC_000002.10:g.96322379G>C NCBI36
NG_016973.1:g.17646C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000323853.10:c.2160+58C>G MANE Select ENSP00000317123.5:n.2160+58C>G
ENST00000652267.1:c.2160+58C>G ENSP00000498933.1:n.2160+58C>G
ENST00000323853.9:c.2160+58C>G ENSP00000317123.5:n.2160+58C>G
NM_014014.4:c.2160+58C>G NP_054733.2:n.2160+58C>G
NM_014014.5:c.2160+58C>G MANE Select NP_054733.2:n.2160+58C>G
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