Canonical Allele Identifier: CA254265

Gene: SNRNP200

Linked Data

• ClinVar Variation Id: 7928
• ClinVar RCV Id: RCV000008390 ; RCV000505052 ; RCV001075824 ; RCV001091895
• dbSNP Id: rs267607077
• ExAC: 2:96953706 G / A
• gnomAD v2: 2-96953706-G-A
• gnomAD v4: 2-96287968-G-A
• MyVariant Identifiers: chr2:g.96953706G>A (hg19) ; chr2:g.96287968G>A (hg38)
• PubMed: PMID:16612614 ; PMID:19878916 ; PMID:24302620 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96287968G>A , CM000664.2:g.96287968G>A	GRCh38
NC_000002.11:g.96953706G>A , CM000664.1:g.96953706G>A	GRCh37
NC_000002.10:g.96317433G>A	NCBI36
NG_016973.1:g.22592C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323853.10:c.3260C>T MANE Select	ENSP00000317123.5:p.Ser1087Leu
ENST00000652267.1:c.3260C>T	ENSP00000498933.1:p.Ser1087Leu
ENST00000323853.9:c.3260C>T	ENSP00000317123.5:p.Ser1087Leu
ENST00000480615.1:n.377C>T
NM_014014.4:c.3260C>T	NP_054733.2:p.Ser1087Leu
NM_014014.5:c.3260C>T MANE Select	NP_054733.2:p.Ser1087Leu