Canonical Allele Identifier: CA405742112

Gene: SARS2 MRPS12

Linked Data

• ClinVar Variation Id: 894514
• ClinVar RCV Id: RCV001135422
• dbSNP Id: rs774548274
• MyVariant Identifiers: chr19:g.39421239C>A (hg19) ; chr19:g.38930599C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38930599C>A , CM000681.2:g.38930599C>A	GRCh38
NC_000019.9:g.39421239C>A , CM000681.1:g.39421239C>A	GRCh37
NC_000019.8:g.44113079C>A	NCBI36
NG_029222.1:g.4892C>A
NG_031865.1:g.5298G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221431.11:c.138G>T (SARS2) MANE Select	ENSP00000221431.6:p.Glu46Asp
ENST00000221431.10:c.138G>T (SARS2)	ENSP00000221431.5:p.Glu46Asp
ENST00000308018.8:c.-419C>A (MRPS12)	ENSP00000308845.3:n.-419C>A
ENST00000430193.7:c.138G>T (SARS2)	ENSP00000406754.3:p.Glu46Asp
ENST00000455102.6:c.138G>T (SARS2)	ENSP00000414954.2:p.Glu46Asp
ENST00000593754.1:c.138G>T (SARS2)	ENSP00000471767.1:p.Glu46Asp
ENST00000598343.5:c.138G>T (SARS2)	ENSP00000472576.1:p.Glu46Asp
ENST00000598598.5:n.165G>T (SARS2)
ENST00000599996.1:c.476-4299G>T
ENST00000600042.5:c.138G>T (SARS2)	ENSP00000472847.1:p.Glu46Asp
NM_001145901.1:c.138G>T (SARS2)	NP_001139373.1:p.Glu46Asp
NM_017827.3:c.138G>T (SARS2)	NP_060297.1:p.Glu46Asp
NM_001145901.2:c.138G>T (SARS2)	NP_001139373.1:p.Glu46Asp
NM_017827.4:c.138G>T (SARS2) MANE Select	NP_060297.1:p.Glu46Asp