×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA347679556
Gene: SNRNP200
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr2:g.96958828C>G (hg19)
chr2:g.96293090C>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.96293090C>G , CM000664.2:g.96293090C>G
GRCh38
NC_000002.11:g.96958828C>G , CM000664.1:g.96958828C>G
GRCh37
NC_000002.10:g.96322555C>G
NCBI36
NG_016973.1:g.17470G>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000323853.10:c.2042G>C
MANE Select
ENSP00000317123.5:p.Arg681Pro
ENST00000652267.1:c.2042G>C
ENSP00000498933.1:p.Arg681Pro
ENST00000323853.9:c.2042G>C
ENSP00000317123.5:p.Arg681Pro
NM_014014.4:c.2042G>C
NP_054733.2:p.Arg681Pro
NM_014014.5:c.2042G>C
MANE Select
NP_054733.2:p.Arg681Pro
Search 100 bp 5'
Search 100 bp 3'