Canonical Allele Identifier: CA532559316
Gene: STON1-GTF2A1L HGNC NCBI

Linked Data

dbSNP Id: rs1320810034
gnomAD v2: 2-48982932-G-T
gnomAD v3: 2-48755793-G-T
gnomAD v4: 2-48755793-G-T
MyVariant Identifiers: chr2:g.48982932G>T (hg19) chr2:g.48755793G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48755793G>T , CM000664.2:g.48755793G>T GRCh38
NC_000002.11:g.48982932G>T , CM000664.1:g.48982932G>T GRCh37
NC_000002.10:g.48836436G>T NCBI36
NG_008193.1:g.4949C>A
NG_033050.1:g.230869G>T
NG_008193.2:g.4949C>A
NG_033050.2:g.230869G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000402114.6:c.3442-20487G>T ENSP00000385701.1:n.3442-20487G>T
NM_001198593.1:c.3442-20487G>T NP_001185522.1:n.3442-20487G>T
NM_001198593.2:c.3442-20487G>T NP_001185522.1:n.3442-20487G>T
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