Canonical Allele Identifier: CA10625561
Gene: SNAI2 HGNC NCBI

Linked Data

ClinVar Variation Id: 363260
ClinVar RCV Id: RCV000261701
dbSNP Id: rs577991090
gnomAD v3: 8-48918473-A-C
gnomAD v4: 8-48918473-A-C
MyVariant Identifiers: chr8:g.49831032A>C (hg19) chr8:g.48918473A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.48918473A>C , CM000670.2:g.48918473A>C GRCh38
NC_000008.10:g.49831032A>C , CM000670.1:g.49831032A>C GRCh37
NC_000008.9:g.49993585A>C NCBI36
NG_012130.1:g.7957T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000020945.4:c.*334T>G MANE Select ENSP00000020945.1:n.*334T>G
ENST00000649776.1:n.2223T>G
ENST00000020945.2:c.*334T>G ENSP00000020945.1:n.*334T>G
ENST00000396822.5:c.*334T>G ENSP00000380034.1:n.*334T>G
NM_003068.4:c.*334T>G NP_003059.1:n.*334T>G
NM_003068.5:c.*334T>G MANE Select NP_003059.1:n.*334T>G
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