Canonical Allele Identifier: CA1401024

Gene: IARS2

Linked Data

• ClinVar Variation Id: 381429
• ClinVar RCV Id: RCV000435089 ; RCV000676402 ; RCV003970150
• dbSNP Id: rs2577154
• ExAC: 1:220267599 C / T
• gnomAD v2: 1-220267599-C-T
• gnomAD v3: 1-220094257-C-T
• gnomAD v4: 1-220094257-C-T
• MyVariant Identifiers: chr1:g.220267599C>T (hg19) ; chr1:g.220094257C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220094257C>T , CM000663.2:g.220094257C>T	GRCh38
NC_000001.10:g.220267599C>T , CM000663.1:g.220267599C>T	GRCh37
NC_000001.9:g.218334222C>T	NCBI36
NG_041799.1:g.5145C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366922.3:c.41C>T MANE Select	ENSP00000355889.2:p.Ala14Val
ENST00000366922.2:c.41C>T	ENSP00000355889.2:p.Ala14Val
NM_018060.3:c.41C>T	NP_060530.3:p.Ala14Val
NM_018060.4:c.41C>T MANE Select	NP_060530.3:p.Ala14Val