Canonical Allele Identifier: CA427500015
Gene: SNRNP200 HGNC NCBI

Linked Data

gnomAD v4: 2-96293008-G-A
MyVariant Identifiers: chr2:g.96958746G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96293008G>A , CM000664.2:g.96293008G>A GRCh38
NC_000002.11:g.96958746G>A , CM000664.1:g.96958746G>A GRCh37
NC_000002.10:g.96322473G>A NCBI36
NG_016973.1:g.17552C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000323853.10:c.2124C>T MANE Select ENSP00000317123.5:p.Val708=
ENST00000652267.1:c.2124C>T ENSP00000498933.1:p.Val708=
ENST00000323853.9:c.2124C>T ENSP00000317123.5:p.Val708=
NM_014014.4:c.2124C>T NP_054733.2:p.Val708=
NM_014014.5:c.2124C>T MANE Select NP_054733.2:p.Val708=
Search 100 bp 5'
Search 100 bp 3'