Canonical Allele Identifier: CA347678952

Gene: SNRNP200

Linked Data

• MyVariant Identifiers: chr2:g.96958720C>G (hg19) ; chr2:g.96292982C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96292982C>G , CM000664.2:g.96292982C>G	GRCh38
NC_000002.11:g.96958720C>G , CM000664.1:g.96958720C>G	GRCh37
NC_000002.10:g.96322447C>G	NCBI36
NG_016973.1:g.17578G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323853.10:c.2150G>C MANE Select	ENSP00000317123.5:p.Gly717Ala
ENST00000652267.1:c.2150G>C	ENSP00000498933.1:p.Gly717Ala
ENST00000323853.9:c.2150G>C	ENSP00000317123.5:p.Gly717Ala
NM_014014.4:c.2150G>C	NP_054733.2:p.Gly717Ala
NM_014014.5:c.2150G>C MANE Select	NP_054733.2:p.Gly717Ala