Canonical Allele Identifier: CA633068541

Gene: SARS2

Linked Data

• ClinVar Variation Id: 2098252
• ClinVar RCV Id: RCV003008416
• dbSNP Id: rs1253534982
• gnomAD v2: 19-39421090-G-A
• gnomAD v3: 19-38930450-G-A
• gnomAD v4: 19-38930450-G-A
• MyVariant Identifiers: chr19:g.39421090G>A (hg19) ; chr19:g.38930450G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38930450G>A , CM000681.2:g.38930450G>A	GRCh38
NC_000019.9:g.39421090G>A , CM000681.1:g.39421090G>A	GRCh37
NC_000019.8:g.44112930G>A	NCBI36
NG_029222.1:g.4743G>A
NG_031865.1:g.5447C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221431.11:c.267+20C>T MANE Select	ENSP00000221431.6:n.267+20C>T
ENST00000221431.10:c.267+20C>T	ENSP00000221431.5:n.267+20C>T
ENST00000430193.7:c.267+20C>T	ENSP00000406754.3:n.267+20C>T
ENST00000455102.6:c.267+20C>T	ENSP00000414954.2:n.267+20C>T
ENST00000593754.1:c.267+20C>T	ENSP00000471767.1:n.267+20C>T
ENST00000598343.5:c.267+20C>T	ENSP00000472576.1:n.267+20C>T
ENST00000598598.5:n.294+20C>T
ENST00000599996.1:c.476-4150C>T
ENST00000600042.5:c.267+20C>T	ENSP00000472847.1:n.267+20C>T
NM_001145901.1:c.267+20C>T	NP_001139373.1:n.267+20C>T
NM_017827.3:c.267+20C>T	NP_060297.1:n.267+20C>T
NM_001145901.2:c.267+20C>T	NP_001139373.1:n.267+20C>T
NM_017827.4:c.267+20C>T MANE Select	NP_060297.1:n.267+20C>T