Canonical Allele Identifier: CA9423342

Gene: SARS2 MRPS12

Linked Data

• ClinVar Variation Id: 2649827
• ClinVar RCV Id: RCV003425141
• dbSNP Id: rs769114619
• ExAC: 19:39421235 C / T
• gnomAD v2: 19-39421235-C-T
• MyVariant Identifiers: chr19:g.39421235C>T (hg19) ; chr19:g.38930595C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38930595C>T , CM000681.2:g.38930595C>T	GRCh38
NC_000019.9:g.39421235C>T , CM000681.1:g.39421235C>T	GRCh37
NC_000019.8:g.44113075C>T	NCBI36
NG_029222.1:g.4888C>T
NG_031865.1:g.5302G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221431.11:c.142G>A (SARS2) MANE Select	ENSP00000221431.6:p.Ala48Thr
ENST00000221431.10:c.142G>A (SARS2)	ENSP00000221431.5:p.Ala48Thr
ENST00000308018.8:c.-423C>T (MRPS12)	ENSP00000308845.3:n.-423C>T
ENST00000430193.7:c.142G>A (SARS2)	ENSP00000406754.3:p.Ala48Thr
ENST00000455102.6:c.142G>A (SARS2)	ENSP00000414954.2:p.Ala48Thr
ENST00000593754.1:c.142G>A (SARS2)	ENSP00000471767.1:p.Ala48Thr
ENST00000598343.5:c.142G>A (SARS2)	ENSP00000472576.1:p.Ala48Thr
ENST00000598598.5:n.169G>A (SARS2)
ENST00000599996.1:c.476-4295G>A
ENST00000600042.5:c.142G>A (SARS2)	ENSP00000472847.1:p.Ala48Thr
NM_001145901.1:c.142G>A (SARS2)	NP_001139373.1:p.Ala48Thr
NM_017827.3:c.142G>A (SARS2)	NP_060297.1:p.Ala48Thr
NM_001145901.2:c.142G>A (SARS2)	NP_001139373.1:p.Ala48Thr
NM_017827.4:c.142G>A (SARS2) MANE Select	NP_060297.1:p.Ala48Thr