Canonical Allele Identifier: CA1778781
Gene: SNRNP200 HGNC NCBI

Linked Data

ClinVar Variation Id: 1445526
ClinVar RCV Id: RCV001985094
dbSNP Id: rs767673801
ExAC: 2:96958808 T / C
gnomAD v2: 2-96958808-T-C
gnomAD v4: 2-96293070-T-C
MyVariant Identifiers: chr2:g.96958808T>C (hg19) chr2:g.96293070T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96293070T>C , CM000664.2:g.96293070T>C GRCh38
NC_000002.11:g.96958808T>C , CM000664.1:g.96958808T>C GRCh37
NC_000002.10:g.96322535T>C NCBI36
NG_016973.1:g.17490A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000323853.10:c.2062A>G MANE Select ENSP00000317123.5:p.Thr688Ala
ENST00000652267.1:c.2062A>G ENSP00000498933.1:p.Thr688Ala
ENST00000323853.9:c.2062A>G ENSP00000317123.5:p.Thr688Ala
NM_014014.4:c.2062A>G NP_054733.2:p.Thr688Ala
NM_014014.5:c.2062A>G MANE Select NP_054733.2:p.Thr688Ala
Search 100 bp 5'
Search 100 bp 3'