Canonical Allele Identifier: CA9423314

Gene: SARS2

Linked Data

• dbSNP Id: rs753664989
• ExAC: 19:39421153 T / G
• gnomAD v2: 19-39421153-T-G
• gnomAD v3: 19-38930513-T-G
• gnomAD v4: 19-38930513-T-G
• MyVariant Identifiers: chr19:g.39421153T>G (hg19) ; chr19:g.39421153_39421154delinsGC (hg19) ; chr19:g.38930513T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38930513T>G , CM000681.2:g.38930513T>G	GRCh38
NC_000019.9:g.39421153T>G , CM000681.1:g.39421153T>G	GRCh37
NC_000019.8:g.44112993T>G	NCBI36
NG_029222.1:g.4806T>G
NG_031865.1:g.5384A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221431.11:c.224A>C MANE Select	ENSP00000221431.6:p.Glu75Ala
ENST00000221431.10:c.224A>C	ENSP00000221431.5:p.Glu75Ala
ENST00000430193.7:c.224A>C	ENSP00000406754.3:p.Glu75Ala
ENST00000455102.6:c.224A>C	ENSP00000414954.2:p.Glu75Ala
ENST00000593754.1:c.224A>C	ENSP00000471767.1:p.Glu75Ala
ENST00000598343.5:c.224A>C	ENSP00000472576.1:p.Glu75Ala
ENST00000598598.5:n.251A>C
ENST00000599996.1:c.476-4213A>C
ENST00000600042.5:c.224A>C	ENSP00000472847.1:p.Glu75Ala
NM_001145901.1:c.224A>C	NP_001139373.1:p.Glu75Ala
NM_017827.3:c.224A>C	NP_060297.1:p.Glu75Ala
NM_001145901.2:c.224A>C	NP_001139373.1:p.Glu75Ala
NM_017827.4:c.224A>C MANE Select	NP_060297.1:p.Glu75Ala