Canonical Allele Identifier: CA427500094
Gene: SNRNP200 HGNC NCBI

Linked Data

gnomAD v4: 2-96293041-A-C
MyVariant Identifiers: chr2:g.96958779A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96293041A>C , CM000664.2:g.96293041A>C GRCh38
NC_000002.11:g.96958779A>C , CM000664.1:g.96958779A>C GRCh37
NC_000002.10:g.96322506A>C NCBI36
NG_016973.1:g.17519T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000323853.10:c.2091T>G MANE Select ENSP00000317123.5:p.Ala697=
ENST00000652267.1:c.2091T>G ENSP00000498933.1:p.Ala697=
ENST00000323853.9:c.2091T>G ENSP00000317123.5:p.Ala697=
NM_014014.4:c.2091T>G NP_054733.2:p.Ala697=
NM_014014.5:c.2091T>G MANE Select NP_054733.2:p.Ala697=