Canonical Allele Identifier: CA9423375
Gene: SARS2 HGNC NCBI
MRPS12 HGNC NCBI

Linked Data

ClinVar Variation Id: 329227
dbSNP Id: rs730078

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38930748A>G , CM000681.2:g.38930748A>G GRCh38
NC_000019.9:g.39421388A>G , CM000681.1:g.39421388A>G GRCh37
NC_000019.8:g.44113228A>G NCBI36
NG_029222.1:g.5041A>G
NG_031865.1:g.5149T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000221431.11:c.-12T>C (SARS2) MANE Select ENSP00000221431.6:n.-12T>C
ENST00000221431.10:c.-12T>C (SARS2) ENSP00000221431.5:n.-12T>C
ENST00000308018.8:c.-270A>G (MRPS12) ENSP00000308845.3:n.-270A>G
ENST00000430193.7:c.-12T>C (SARS2) ENSP00000406754.3:n.-12T>C
ENST00000455102.6:c.-12T>C (SARS2) ENSP00000414954.2:n.-12T>C
ENST00000593754.1:c.-12T>C (SARS2) ENSP00000471767.1:n.-12T>C
ENST00000598343.5:c.-12T>C (SARS2) ENSP00000472576.1:n.-12T>C
ENST00000598598.5:n.16T>C (SARS2)
ENST00000599996.1:c.476-4448T>C
ENST00000600042.5:c.-12T>C (SARS2) ENSP00000472847.1:n.-12T>C
NM_001145901.1:c.-12T>C (SARS2) NP_001139373.1:n.-12T>C
NM_017827.3:c.-12T>C (SARS2) NP_060297.1:n.-12T>C
NM_033362.3:c.-270A>G (MRPS12) NP_203526.1:n.-270A>G
NM_001145901.2:c.-12T>C (SARS2) NP_001139373.1:n.-12T>C
NM_017827.4:c.-12T>C (SARS2) MANE Select NP_060297.1:n.-12T>C