Canonical Allele Identifier: CA347679443
Gene: SNRNP200 HGNC NCBI

Linked Data

ClinVar Variation Id: 1700943
ClinVar RCV Id: RCV002276315
dbSNP Id: rs2104352088
MyVariant Identifiers: chr2:g.96958802C>T (hg19) chr2:g.96293064C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96293064C>T , CM000664.2:g.96293064C>T GRCh38
NC_000002.11:g.96958802C>T , CM000664.1:g.96958802C>T GRCh37
NC_000002.10:g.96322529C>T NCBI36
NG_016973.1:g.17496G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000323853.10:c.2068G>A MANE Select ENSP00000317123.5:p.Val690Met
ENST00000652267.1:c.2068G>A ENSP00000498933.1:p.Val690Met
ENST00000323853.9:c.2068G>A ENSP00000317123.5:p.Val690Met
NM_014014.4:c.2068G>A NP_054733.2:p.Val690Met
NM_014014.5:c.2068G>A MANE Select NP_054733.2:p.Val690Met
Search 100 bp 5'
Search 100 bp 3'