Canonical Allele Identifier: CA895728505
Gene: SNRNP200 HGNC NCBI

Linked Data

dbSNP Id: rs929944920
gnomAD v3: 2-96292845-C-G
gnomAD v4: 2-96292845-C-G
MyVariant Identifiers: chr2:g.96958583C>G (hg19) chr2:g.96292845C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96292845C>G , CM000664.2:g.96292845C>G GRCh38
NC_000002.11:g.96958583C>G , CM000664.1:g.96958583C>G GRCh37
NC_000002.10:g.96322310C>G NCBI36
NG_016973.1:g.17715G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000323853.10:c.2160+127G>C MANE Select ENSP00000317123.5:n.2160+127G>C
ENST00000652267.1:c.2160+127G>C ENSP00000498933.1:n.2160+127G>C
ENST00000323853.9:c.2160+127G>C ENSP00000317123.5:n.2160+127G>C
NM_014014.4:c.2160+127G>C NP_054733.2:n.2160+127G>C
NM_014014.5:c.2160+127G>C MANE Select NP_054733.2:n.2160+127G>C
Search 100 bp 5'
Search 100 bp 3'