Canonical Allele Identifier: CA347679245

Gene: SNRNP200

Linked Data

• MyVariant Identifiers: chr2:g.96958761G>C (hg19) ; chr2:g.96293023G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96293023G>C , CM000664.2:g.96293023G>C	GRCh38
NC_000002.11:g.96958761G>C , CM000664.1:g.96958761G>C	GRCh37
NC_000002.10:g.96322488G>C	NCBI36
NG_016973.1:g.17537C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323853.10:c.2109C>G MANE Select	ENSP00000317123.5:p.Ile703Met
ENST00000652267.1:c.2109C>G	ENSP00000498933.1:p.Ile703Met
ENST00000323853.9:c.2109C>G	ENSP00000317123.5:p.Ile703Met
NM_014014.4:c.2109C>G	NP_054733.2:p.Ile703Met
NM_014014.5:c.2109C>G MANE Select	NP_054733.2:p.Ile703Met