Canonical Allele Identifier: CA1778160

Gene: SNRNP200

Linked Data

• ClinVar Variation Id: 337540
• ClinVar RCV Id: RCV000403123 ; RCV001060574 ; RCV003278777
• dbSNP Id: rs78715863
• ExAC: 2:96949358 T / C
• gnomAD v2: 2-96949358-T-C
• gnomAD v3: 2-96283620-T-C
• gnomAD v4: 2-96283620-T-C
• MyVariant Identifiers: chr2:g.96949358T>C (hg19) ; chr2:g.96283620T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96283620T>C , CM000664.2:g.96283620T>C	GRCh38
NC_000002.11:g.96949358T>C , CM000664.1:g.96949358T>C	GRCh37
NC_000002.10:g.96313085T>C	NCBI36
NG_016973.1:g.26940A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323853.10:c.4678A>G MANE Select	ENSP00000317123.5:p.Ile1560Val
ENST00000323853.9:c.4678A>G	ENSP00000317123.5:p.Ile1560Val
ENST00000429650.1:c.259A>G	ENSP00000387870.1:p.Ile87Val
ENST00000480242.1:n.1156A>G
ENST00000497539.5:n.652A>G
NM_014014.4:c.4678A>G	NP_054733.2:p.Ile1560Val
NM_014014.5:c.4678A>G MANE Select	NP_054733.2:p.Ile1560Val