Canonical Allele Identifier: CA347678965

Gene: SNRNP200

Linked Data

• MyVariant Identifiers: chr2:g.96958723G>A (hg19) ; chr2:g.96292985G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96292985G>A , CM000664.2:g.96292985G>A	GRCh38
NC_000002.11:g.96958723G>A , CM000664.1:g.96958723G>A	GRCh37
NC_000002.10:g.96322450G>A	NCBI36
NG_016973.1:g.17575C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323853.10:c.2147C>T MANE Select	ENSP00000317123.5:p.Ala716Val
ENST00000652267.1:c.2147C>T	ENSP00000498933.1:p.Ala716Val
ENST00000323853.9:c.2147C>T	ENSP00000317123.5:p.Ala716Val
NM_014014.4:c.2147C>T	NP_054733.2:p.Ala716Val
NM_014014.5:c.2147C>T MANE Select	NP_054733.2:p.Ala716Val