Canonical Allele Identifier: CA9423305

Gene: SARS2

Linked Data

• ClinVar Variation Id: 1966939
• ClinVar RCV Id: RCV002721667
• dbSNP Id: rs765653321
• ExAC: 19:39421125 C / G
• gnomAD v2: 19-39421125-C-G
• gnomAD v3: 19-38930485-C-G
• gnomAD v4: 19-38930485-C-G
• MyVariant Identifiers: chr19:g.39421125C>G (hg19) ; chr19:g.38930485C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38930485C>G , CM000681.2:g.38930485C>G	GRCh38
NC_000019.9:g.39421125C>G , CM000681.1:g.39421125C>G	GRCh37
NC_000019.8:g.44112965C>G	NCBI36
NG_029222.1:g.4778C>G
NG_031865.1:g.5412G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221431.11:c.252G>C MANE Select	ENSP00000221431.6:p.Ala84=
ENST00000221431.10:c.252G>C	ENSP00000221431.5:p.Ala84=
ENST00000430193.7:c.252G>C	ENSP00000406754.3:p.Ala84=
ENST00000455102.6:c.252G>C	ENSP00000414954.2:p.Ala84=
ENST00000593754.1:c.252G>C	ENSP00000471767.1:p.Ala84=
ENST00000598343.5:c.252G>C	ENSP00000472576.1:p.Ala84=
ENST00000598598.5:n.279G>C
ENST00000599996.1:c.476-4185G>C
ENST00000600042.5:c.252G>C	ENSP00000472847.1:p.Ala84=
NM_001145901.1:c.252G>C	NP_001139373.1:p.Ala84=
NM_017827.3:c.252G>C	NP_060297.1:p.Ala84=
NM_001145901.2:c.252G>C	NP_001139373.1:p.Ala84=
NM_017827.4:c.252G>C MANE Select	NP_060297.1:p.Ala84=