Canonical Allele Identifier: CA347679289
Gene: SNRNP200 HGNC NCBI

Linked Data

ClinVar Variation Id: 1027126
ClinVar RCV Id: RCV001327679
dbSNP Id: rs2063893534

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96293028G>A , CM000664.2:g.96293028G>A GRCh38
NC_000002.11:g.96958766G>A , CM000664.1:g.96958766G>A GRCh37
NC_000002.10:g.96322493G>A NCBI36
NG_016973.1:g.17532C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000323853.10:c.2104C>T MANE Select ENSP00000317123.5:p.Gln702Ter
ENST00000652267.1:c.2104C>T ENSP00000498933.1:p.Gln702Ter
ENST00000323853.9:c.2104C>T ENSP00000317123.5:p.Gln702Ter
NM_014014.4:c.2104C>T NP_054733.2:p.Gln702Ter
NM_014014.5:c.2104C>T MANE Select NP_054733.2:p.Gln702Ter