Canonical Allele Identifier: CA632901522
Gene: SARS2 HGNC NCBI
MRPS12 HGNC NCBI

Linked Data

dbSNP Id: rs1282311714
gnomAD v2: 19-39421403-C-T
gnomAD v4: 19-38930763-C-T
COSMIC: COSN8407646
MyVariant Identifiers: chr19:g.39421403C>T (hg19) chr19:g.38930763C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38930763C>T , CM000681.2:g.38930763C>T GRCh38
NC_000019.9:g.39421403C>T , CM000681.1:g.39421403C>T GRCh37
NC_000019.8:g.44113243C>T NCBI36
NG_029222.1:g.5056C>T
NG_031865.1:g.5134G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000221431.11:c.-27G>A (SARS2) MANE Select ENSP00000221431.6:n.-27G>A
ENST00000221431.10:c.-27G>A (SARS2) ENSP00000221431.5:n.-27G>A
ENST00000308018.8:c.-255C>T (MRPS12) ENSP00000308845.3:n.-255C>T
ENST00000598598.5:n.1G>A (SARS2)
ENST00000599996.1:c.476-4463G>A
NM_001145901.1:c.-27G>A (SARS2) NP_001139373.1:n.-27G>A
NM_017827.3:c.-27G>A (SARS2) NP_060297.1:n.-27G>A
NM_033362.3:c.-255C>T (MRPS12) NP_203526.1:n.-255C>T
NM_001145901.2:c.-27G>A (SARS2) NP_001139373.1:n.-27G>A
NM_017827.4:c.-27G>A (SARS2) MANE Select NP_060297.1:n.-27G>A
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