Canonical Allele Identifier: CA895728496

Gene: SNRNP200

Linked Data

• dbSNP Id: rs1163992971
• gnomAD v3: 2-96292824-T-G
• gnomAD v4: 2-96292824-T-G
• MyVariant Identifiers: chr2:g.96958562T>G (hg19) ; chr2:g.96292824T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96292824T>G , CM000664.2:g.96292824T>G	GRCh38
NC_000002.11:g.96958562T>G , CM000664.1:g.96958562T>G	GRCh37
NC_000002.10:g.96322289T>G	NCBI36
NG_016973.1:g.17736A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323853.10:c.2160+148A>C MANE Select	ENSP00000317123.5:n.2160+148A>C
ENST00000652267.1:c.2160+148A>C	ENSP00000498933.1:n.2160+148A>C
ENST00000323853.9:c.2160+148A>C	ENSP00000317123.5:n.2160+148A>C
NM_014014.4:c.2160+148A>C	NP_054733.2:n.2160+148A>C
NM_014014.5:c.2160+148A>C MANE Select	NP_054733.2:n.2160+148A>C