Canonical Allele Identifier: CA47295609
Gene: STON1-GTF2A1L HGNC NCBI

Linked Data

dbSNP Id: rs969172410
gnomAD v2: 2-48982999-C-A
gnomAD v3: 2-48755860-C-A
gnomAD v4: 2-48755860-C-A
MyVariant Identifiers: chr2:g.48982999C>A (hg19) chr2:g.48755860C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48755860C>A , CM000664.2:g.48755860C>A GRCh38
NC_000002.11:g.48982999C>A , CM000664.1:g.48982999C>A GRCh37
NC_000002.10:g.48836503C>A NCBI36
NG_008193.1:g.4882G>T
NG_033050.1:g.230936C>A
NG_008193.2:g.4882G>T
NG_033050.2:g.230936C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000402114.6:c.3442-20420C>A ENSP00000385701.1:n.3442-20420C>A
NM_001198593.1:c.3442-20420C>A NP_001185522.1:n.3442-20420C>A
NM_001198593.2:c.3442-20420C>A NP_001185522.1:n.3442-20420C>A
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