Canonical Allele Identifier: CA293132

Gene: SARS2 MRPS12

Linked Data

• ClinVar Variation Id: 138960
• ClinVar RCV Id: RCV000127860 ; RCV000292872 ; RCV000676535
• dbSNP Id: rs34264048
• ExAC: 19:39421274 T / C
• gnomAD v2: 19-39421274-T-C
• gnomAD v3: 19-38930634-T-C
• gnomAD v4: 19-38930634-T-C
• MyVariant Identifiers: chr19:g.39421274T>C (hg19) ; chr19:g.38930634T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38930634T>C , CM000681.2:g.38930634T>C	GRCh38
NC_000019.9:g.39421274T>C , CM000681.1:g.39421274T>C	GRCh37
NC_000019.8:g.44113114T>C	NCBI36
NG_029222.1:g.4927T>C
NG_031865.1:g.5263A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221431.11:c.103A>G (SARS2) MANE Select	ENSP00000221431.6:p.Thr35Ala
ENST00000221431.10:c.103A>G (SARS2)	ENSP00000221431.5:p.Thr35Ala
ENST00000308018.8:c.-384T>C (MRPS12)	ENSP00000308845.3:n.-384T>C
ENST00000430193.7:c.103A>G (SARS2)	ENSP00000406754.3:p.Thr35Ala
ENST00000455102.6:c.103A>G (SARS2)	ENSP00000414954.2:p.Thr35Ala
ENST00000593754.1:c.103A>G (SARS2)	ENSP00000471767.1:p.Thr35Ala
ENST00000598343.5:c.103A>G (SARS2)	ENSP00000472576.1:p.Thr35Ala
ENST00000598598.5:n.130A>G (SARS2)
ENST00000599996.1:c.476-4334A>G
ENST00000600042.5:c.103A>G (SARS2)	ENSP00000472847.1:p.Thr35Ala
NM_001145901.1:c.103A>G (SARS2)	NP_001139373.1:p.Thr35Ala
NM_017827.3:c.103A>G (SARS2)	NP_060297.1:p.Thr35Ala
NM_001145901.2:c.103A>G (SARS2)	NP_001139373.1:p.Thr35Ala
NM_017827.4:c.103A>G (SARS2) MANE Select	NP_060297.1:p.Thr35Ala