Canonical Allele Identifier: CA405736304

Gene: SARS2

Linked Data

• ClinVar Variation Id: 242874
• ClinVar RCV Id: RCV000491254
• dbSNP Id: rs1114167285
• MyVariant Identifiers: chr19:g.39408569A>G (hg19) ; chr19:g.38917929A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38917929A>G , CM000681.2:g.38917929A>G	GRCh38
NC_000019.9:g.39408569A>G , CM000681.1:g.39408569A>G	GRCh37
NC_000019.8:g.44100409A>G	NCBI36
NG_031865.1:g.17968T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221431.11:c.1042T>C MANE Select	ENSP00000221431.6:p.Phe348Leu
ENST00000221431.10:c.1042T>C	ENSP00000221431.5:p.Phe348Leu
ENST00000430193.7:c.1042T>C	ENSP00000406754.3:p.Phe348Leu
ENST00000455102.6:c.*267T>C	ENSP00000414954.2:n.*267T>C
ENST00000594171.5:c.472T>C	ENSP00000472339.1:p.Phe158Leu
ENST00000598563.5:n.391T>C
ENST00000599996.1:c.1250T>C
ENST00000600042.5:c.1048T>C	ENSP00000472847.1:p.Phe350Leu
NM_001145901.1:c.1048T>C	NP_001139373.1:p.Phe350Leu
NM_017827.3:c.1042T>C	NP_060297.1:p.Phe348Leu
NM_001145901.2:c.1048T>C	NP_001139373.1:p.Phe350Leu
NM_017827.4:c.1042T>C MANE Select	NP_060297.1:p.Phe348Leu