Canonical Allele Identifier: CA1778759
Gene: SNRNP200 HGNC NCBI

Linked Data

dbSNP Id: rs770065362
ExAC: 2:96958671 AGAAT / A
gnomAD v2: 2-96958671-AGAAT-A
gnomAD v3: 2-96292933-AGAAT-A
gnomAD v4: 2-96292933-AGAAT-A
MyVariant Identifiers: chr2:g.96958672_96958675del (hg19) chr2:g.96292934_96292937del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96292935_96292938del , CM000664.2:g.96292935_96292938del GRCh38
NC_000002.11:g.96958673_96958676del , CM000664.1:g.96958673_96958676del GRCh37
NC_000002.10:g.96322400_96322403del NCBI36
NG_016973.1:g.17623_17626del

Transcript Alleles

HGVS Amino-acid Change
ENST00000323853.10:c.2160+35_2160+38del MANE Select ENSP00000317123.5:n.2160+35_2160+38del
ENST00000652267.1:c.2160+35_2160+38del ENSP00000498933.1:n.2160+35_2160+38del
ENST00000323853.9:c.2160+35_2160+38del ENSP00000317123.5:n.2160+35_2160+38del
NM_014014.4:c.2160+35_2160+38del NP_054733.2:n.2160+35_2160+38del
NM_014014.5:c.2160+35_2160+38del MANE Select NP_054733.2:n.2160+35_2160+38del
Search 100 bp 5'
Search 100 bp 3'