Canonical Allele Identifier: CA293135
Gene: SARS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 138961
ClinVar RCV Id: RCV000127861 RCV000351581 RCV000676534
dbSNP Id: rs34050897
ExAC: 19:39421129 G / A
gnomAD v2: 19-39421129-G-A
gnomAD v3: 19-38930489-G-A
gnomAD v4: 19-38930489-G-A
COSMIC: COSM439451 COSM1481026
MyVariant Identifiers: chr19:g.39421129G>A (hg19) chr19:g.38930489G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38930489G>A , CM000681.2:g.38930489G>A GRCh38
NC_000019.9:g.39421129G>A , CM000681.1:g.39421129G>A GRCh37
NC_000019.8:g.44112969G>A NCBI36
NG_029222.1:g.4782G>A
NG_031865.1:g.5408C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000221431.11:c.248C>T MANE Select ENSP00000221431.6:p.Ser83Leu
ENST00000221431.10:c.248C>T ENSP00000221431.5:p.Ser83Leu
ENST00000430193.7:c.248C>T ENSP00000406754.3:p.Ser83Leu
ENST00000455102.6:c.248C>T ENSP00000414954.2:p.Ser83Leu
ENST00000593754.1:c.248C>T ENSP00000471767.1:p.Ser83Leu
ENST00000598343.5:c.248C>T ENSP00000472576.1:p.Ser83Leu
ENST00000598598.5:n.275C>T
ENST00000599996.1:c.476-4189C>T
ENST00000600042.5:c.248C>T ENSP00000472847.1:p.Ser83Leu
NM_001145901.1:c.248C>T NP_001139373.1:p.Ser83Leu
NM_017827.3:c.248C>T NP_060297.1:p.Ser83Leu
NM_001145901.2:c.248C>T NP_001139373.1:p.Ser83Leu
NM_017827.4:c.248C>T MANE Select NP_060297.1:p.Ser83Leu
Search 100 bp 5'
Search 100 bp 3'