Canonical Allele Identifier: CA47295600
Gene: STON1-GTF2A1L HGNC NCBI

Linked Data

dbSNP Id: rs917554903
gnomAD v4: 2-48755800-C-G
MyVariant Identifiers: chr2:g.48982939C>G (hg19) chr2:g.48755800C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48755800C>G , CM000664.2:g.48755800C>G GRCh38
NC_000002.11:g.48982939C>G , CM000664.1:g.48982939C>G GRCh37
NC_000002.10:g.48836443C>G NCBI36
NG_008193.1:g.4942G>C
NG_033050.1:g.230876C>G
NG_008193.2:g.4942G>C
NG_033050.2:g.230876C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000402114.6:c.3442-20480C>G ENSP00000385701.1:n.3442-20480C>G
NM_001198593.1:c.3442-20480C>G NP_001185522.1:n.3442-20480C>G
NM_001198593.2:c.3442-20480C>G NP_001185522.1:n.3442-20480C>G
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