Canonical Allele Identifier: CA1777724
Gene: SNRNP200 HGNC NCBI

Linked Data

ClinVar Variation Id: 337523
ClinVar RCV Id: RCV000343558 RCV000591814
dbSNP Id: rs61753580
ExAC: 2:96940792 G / A
gnomAD v2: 2-96940792-G-A
gnomAD v3: 2-96275054-G-A
gnomAD v4: 2-96275054-G-A
MyVariant Identifiers: chr2:g.96940792G>A (hg19) chr2:g.96275054G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96275054G>A , CM000664.2:g.96275054G>A GRCh38
NC_000002.11:g.96940792G>A , CM000664.1:g.96940792G>A GRCh37
NC_000002.10:g.96304519G>A NCBI36
NG_016973.1:g.35506C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000323853.10:c.6369C>T MANE Select ENSP00000317123.5:p.Ser2123=
ENST00000323853.9:c.6369C>T ENSP00000317123.5:p.Ser2123=
ENST00000429650.1:c.*424C>T ENSP00000387870.1:n.*424C>T
ENST00000497539.5:n.2343C>T
NM_014014.4:c.6369C>T NP_054733.2:p.Ser2123=
NM_014014.5:c.6369C>T MANE Select NP_054733.2:p.Ser2123=
Search 100 bp 5'
Search 100 bp 3'