Canonical Allele Identifier: CA10652431

Gene: SARS2 MRPS12

Linked Data

• ClinVar Variation Id: 329225
• ClinVar RCV Id: RCV000396777
• dbSNP Id: rs886054430
• gnomAD v2: 19-39421202-C-G
• gnomAD v3: 19-38930562-C-G
• gnomAD v4: 19-38930562-C-G
• MyVariant Identifiers: chr19:g.39421202C>G (hg19) ; chr19:g.38930562C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38930562C>G , CM000681.2:g.38930562C>G	GRCh38
NC_000019.9:g.39421202C>G , CM000681.1:g.39421202C>G	GRCh37
NC_000019.8:g.44113042C>G	NCBI36
NG_029222.1:g.4855C>G
NG_031865.1:g.5335G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000221431.11:c.175G>C (SARS2) MANE Select	ENSP00000221431.6:p.Asp59His
ENST00000221431.10:c.175G>C (SARS2)	ENSP00000221431.5:p.Asp59His
ENST00000308018.8:c.-456C>G (MRPS12)	ENSP00000308845.3:n.-456C>G
ENST00000430193.7:c.175G>C (SARS2)	ENSP00000406754.3:p.Asp59His
ENST00000455102.6:c.175G>C (SARS2)	ENSP00000414954.2:p.Asp59His
ENST00000593754.1:c.175G>C (SARS2)	ENSP00000471767.1:p.Asp59His
ENST00000598343.5:c.175G>C (SARS2)	ENSP00000472576.1:p.Asp59His
ENST00000598598.5:n.202G>C (SARS2)
ENST00000599996.1:c.476-4262G>C
ENST00000600042.5:c.175G>C (SARS2)	ENSP00000472847.1:p.Asp59His
NM_001145901.1:c.175G>C (SARS2)	NP_001139373.1:p.Asp59His
NM_017827.3:c.175G>C (SARS2)	NP_060297.1:p.Asp59His
NM_001145901.2:c.175G>C (SARS2)	NP_001139373.1:p.Asp59His
NM_017827.4:c.175G>C (SARS2) MANE Select	NP_060297.1:p.Asp59His