Canonical Allele Identifier: CA10631267
Gene: SNAI2 HGNC NCBI

Linked Data

ClinVar Variation Id: 363269
ClinVar RCV Id: RCV000303169
dbSNP Id: rs886062987
gnomAD v4: 8-48921278-T-A
MyVariant Identifiers: chr8:g.49833837T>A (hg19) chr8:g.48921278T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.48921278T>A , CM000670.2:g.48921278T>A GRCh38
NC_000008.10:g.49833837T>A , CM000670.1:g.49833837T>A GRCh37
NC_000008.9:g.49996390T>A NCBI36
NG_012130.1:g.5152A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000020945.4:c.-13A>T MANE Select ENSP00000020945.1:n.-13A>T
ENST00000396822.6:c.-13A>T ENSP00000380034.2:n.-13A>T
ENST00000649776.1:n.163A>T
ENST00000020945.2:c.-13A>T ENSP00000020945.1:n.-13A>T
ENST00000396822.5:c.-13A>T ENSP00000380034.1:n.-13A>T
NM_003068.4:c.-13A>T NP_003059.1:n.-13A>T
NM_003068.5:c.-13A>T MANE Select NP_003059.1:n.-13A>T
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