Canonical Allele Identifier: CA47295608
Gene: STON1-GTF2A1L HGNC NCBI

Linked Data

dbSNP Id: rs532961640
gnomAD v2: 2-48982985-A-G
gnomAD v3: 2-48755846-A-G
gnomAD v4: 2-48755846-A-G
MyVariant Identifiers: chr2:g.48982985A>G (hg19) chr2:g.48755846A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48755846A>G , CM000664.2:g.48755846A>G GRCh38
NC_000002.11:g.48982985A>G , CM000664.1:g.48982985A>G GRCh37
NC_000002.10:g.48836489A>G NCBI36
NG_008193.1:g.4896T>C
NG_033050.1:g.230922A>G
NG_008193.2:g.4896T>C
NG_033050.2:g.230922A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000402114.6:c.3442-20434A>G ENSP00000385701.1:n.3442-20434A>G
NM_001198593.1:c.3442-20434A>G NP_001185522.1:n.3442-20434A>G
NM_001198593.2:c.3442-20434A>G NP_001185522.1:n.3442-20434A>G
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