Canonical Allele Identifier: CA9423374

Gene: SARS2 MRPS12

Linked Data

• ClinVar Variation Id: 3042088
• ClinVar RCV Id: RCV003924359
• dbSNP Id: rs758783969
• ExAC: 19:39421386 G / A
• gnomAD v2: 19-39421386-G-A
• gnomAD v3: 19-38930746-G-A
• gnomAD v4: 19-38930746-G-A
• MyVariant Identifiers: chr19:g.39421386G>A (hg19) ; chr19:g.38930746G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38930746G>A , CM000681.2:g.38930746G>A	GRCh38
NC_000019.9:g.39421386G>A , CM000681.1:g.39421386G>A	GRCh37
NC_000019.8:g.44113226G>A	NCBI36
NG_029222.1:g.5039G>A
NG_031865.1:g.5151C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221431.11:c.-10C>T (SARS2) MANE Select	ENSP00000221431.6:n.-10C>T
ENST00000221431.10:c.-10C>T (SARS2)	ENSP00000221431.5:n.-10C>T
ENST00000308018.8:c.-272G>A (MRPS12)	ENSP00000308845.3:n.-272G>A
ENST00000430193.7:c.-10C>T (SARS2)	ENSP00000406754.3:n.-10C>T
ENST00000455102.6:c.-10C>T (SARS2)	ENSP00000414954.2:n.-10C>T
ENST00000593754.1:c.-10C>T (SARS2)	ENSP00000471767.1:n.-10C>T
ENST00000598343.5:c.-10C>T (SARS2)	ENSP00000472576.1:n.-10C>T
ENST00000598598.5:n.18C>T (SARS2)
ENST00000599996.1:c.476-4446C>T
ENST00000600042.5:c.-10C>T (SARS2)	ENSP00000472847.1:n.-10C>T
NM_001145901.1:c.-10C>T (SARS2)	NP_001139373.1:n.-10C>T
NM_017827.3:c.-10C>T (SARS2)	NP_060297.1:n.-10C>T
NM_033362.3:c.-272G>A (MRPS12)	NP_203526.1:n.-272G>A
NM_001145901.2:c.-10C>T (SARS2)	NP_001139373.1:n.-10C>T
NM_017827.4:c.-10C>T (SARS2) MANE Select	NP_060297.1:n.-10C>T