Canonical Allele Identifier: CA347679228

Gene: SNRNP200

Linked Data

• MyVariant Identifiers: chr2:g.96958758C>T (hg19) ; chr2:g.96293020C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96293020C>T , CM000664.2:g.96293020C>T	GRCh38
NC_000002.11:g.96958758C>T , CM000664.1:g.96958758C>T	GRCh37
NC_000002.10:g.96322485C>T	NCBI36
NG_016973.1:g.17540G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323853.10:c.2112G>A MANE Select	ENSP00000317123.5:p.Met704Ile
ENST00000652267.1:c.2112G>A	ENSP00000498933.1:p.Met704Ile
ENST00000323853.9:c.2112G>A	ENSP00000317123.5:p.Met704Ile
NM_014014.4:c.2112G>A	NP_054733.2:p.Met704Ile
NM_014014.5:c.2112G>A MANE Select	NP_054733.2:p.Met704Ile