Canonical Allele Identifier: CA10631266
Gene: SNAI2 HGNC NCBI

Linked Data

ClinVar Variation Id: 363267
ClinVar RCV Id: RCV000299485 RCV003766092
dbSNP Id: rs886062986
gnomAD v2: 8-49832950-G-T
gnomAD v4: 8-48920391-G-T
MyVariant Identifiers: chr8:g.49832950G>T (hg19) chr8:g.48920391G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.48920391G>T , CM000670.2:g.48920391G>T GRCh38
NC_000008.10:g.49832950G>T , CM000670.1:g.49832950G>T GRCh37
NC_000008.9:g.49995503G>T NCBI36
NG_012130.1:g.6039C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000020945.4:c.130C>A MANE Select ENSP00000020945.1:p.Gln44Lys
ENST00000396822.6:c.130C>A ENSP00000380034.2:p.Gln44Lys
ENST00000649776.1:n.305C>A
ENST00000020945.2:c.130C>A ENSP00000020945.1:p.Gln44Lys
ENST00000396822.5:c.130C>A ENSP00000380034.1:p.Gln44Lys
NM_003068.4:c.130C>A NP_003059.1:p.Gln44Lys
NM_003068.5:c.130C>A MANE Select NP_003059.1:p.Gln44Lys
Search 100 bp 5'
Search 100 bp 3'