Canonical Allele Identifier: CA1778760
Gene: SNRNP200 HGNC NCBI

Linked Data

dbSNP Id: rs763045302
ExAC: 2:96958679 G / A
gnomAD v2: 2-96958679-G-A
gnomAD v4: 2-96292941-G-A
MyVariant Identifiers: chr2:g.96958679G>A (hg19) chr2:g.96292941G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96292941G>A , CM000664.2:g.96292941G>A GRCh38
NC_000002.11:g.96958679G>A , CM000664.1:g.96958679G>A GRCh37
NC_000002.10:g.96322406G>A NCBI36
NG_016973.1:g.17619C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000323853.10:c.2160+31C>T MANE Select ENSP00000317123.5:n.2160+31C>T
ENST00000652267.1:c.2160+31C>T ENSP00000498933.1:n.2160+31C>T
ENST00000323853.9:c.2160+31C>T ENSP00000317123.5:n.2160+31C>T
NM_014014.4:c.2160+31C>T NP_054733.2:n.2160+31C>T
NM_014014.5:c.2160+31C>T MANE Select NP_054733.2:n.2160+31C>T
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