Canonical Allele Identifier: CA895728514
Gene: SNRNP200 HGNC NCBI

Linked Data

dbSNP Id: rs1218106126
gnomAD v3: 2-96292876-TTC-T
gnomAD v4: 2-96292876-TTC-T
MyVariant Identifiers: chr2:g.96958615_96958616del (hg19) chr2:g.96292877_96292878del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96292882_96292883del , CM000664.2:g.96292882_96292883del GRCh38
NC_000002.11:g.96958620_96958621del , CM000664.1:g.96958620_96958621del GRCh37
NC_000002.10:g.96322347_96322348del NCBI36
NG_016973.1:g.17682_17683del

Transcript Alleles

HGVS Amino-acid Change
ENST00000323853.10:c.2160+94_2160+95del MANE Select ENSP00000317123.5:n.2160+94_2160+95del
ENST00000652267.1:c.2160+94_2160+95del ENSP00000498933.1:n.2160+94_2160+95del
ENST00000323853.9:c.2160+94_2160+95del ENSP00000317123.5:n.2160+94_2160+95del
NM_014014.4:c.2160+94_2160+95del NP_054733.2:n.2160+94_2160+95del
NM_014014.5:c.2160+94_2160+95del MANE Select NP_054733.2:n.2160+94_2160+95del
Search 100 bp 5'
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