Canonical Allele Identifier: CA869514

Gene: PARS2

Linked Data

• ClinVar Variation Id: 432121
• ClinVar RCV Id: RCV000497433 ; RCV000779609 ; RCV000723278
• dbSNP Id: rs147227819
• ExAC: 1:55224552 C / T
• gnomAD v2: 1-55224552-C-T
• gnomAD v3: 1-54758879-C-T
• gnomAD v4: 1-54758879-C-T
• MyVariant Identifiers: chr1:g.55224552C>T (hg19) ; chr1:g.54758879C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.54758879C>T , CM000663.2:g.54758879C>T	GRCh38
NC_000001.10:g.55224552C>T , CM000663.1:g.55224552C>T	GRCh37
NC_000001.9:g.54997140C>T	NCBI36
NG_042048.1:g.10675G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371279.4:c.283G>A MANE Select	ENSP00000360327.3:p.Val95Ile
ENST00000371279.3:c.283G>A	ENSP00000360327.3:p.Val95Ile
NM_152268.3:c.283G>A	NP_689481.2:p.Val95Ile
XM_011541203.1:c.460G>A	XP_011539505.1:p.Val154Ile
NM_152268.4:c.283G>A MANE Select	NP_689481.2:p.Val95Ile