Canonical Allele Identifier: CA347678919

Gene: SNRNP200

Linked Data

• MyVariant Identifiers: chr2:g.96958714T>A (hg19) ; chr2:g.96292976T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96292976T>A , CM000664.2:g.96292976T>A	GRCh38
NC_000002.11:g.96958714T>A , CM000664.1:g.96958714T>A	GRCh37
NC_000002.10:g.96322441T>A	NCBI36
NG_016973.1:g.17584A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323853.10:c.2156A>T MANE Select	ENSP00000317123.5:p.Asn719Ile
ENST00000652267.1:c.2156A>T	ENSP00000498933.1:p.Asn719Ile
ENST00000323853.9:c.2156A>T	ENSP00000317123.5:p.Asn719Ile
NM_014014.4:c.2156A>T	NP_054733.2:p.Asn719Ile
NM_014014.5:c.2156A>T MANE Select	NP_054733.2:p.Asn719Ile