Canonical Allele Identifier: CA10614195
Gene: SNRNP200 HGNC NCBI

Linked Data

ClinVar Variation Id: 337519
ClinVar RCV Id: RCV000291920
dbSNP Id: rs560814451
gnomAD v3: 2-96274755-G-C
gnomAD v4: 2-96274755-G-C
MyVariant Identifiers: chr2:g.96940493G>C (hg19) chr2:g.96274755G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96274755G>C , CM000664.2:g.96274755G>C GRCh38
NC_000002.11:g.96940493G>C , CM000664.1:g.96940493G>C GRCh37
NC_000002.10:g.96304220G>C NCBI36
NG_016973.1:g.35805C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000323853.10:c.*257C>G MANE Select ENSP00000317123.5:n.*257C>G
ENST00000323853.9:c.*257C>G ENSP00000317123.5:n.*257C>G
ENST00000497539.5:n.2642C>G
NM_014014.4:c.*257C>G NP_054733.2:n.*257C>G
NM_014014.5:c.*257C>G MANE Select NP_054733.2:n.*257C>G
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