Canonical Allele Identifier: CA532559313
Gene: STON1-GTF2A1L HGNC NCBI

Linked Data

dbSNP Id: rs550041052
gnomAD v2: 2-48982925-C-T
gnomAD v3: 2-48755786-C-T
gnomAD v4: 2-48755786-C-T
MyVariant Identifiers: chr2:g.48982925C>T (hg19) chr2:g.48755786C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48755786C>T , CM000664.2:g.48755786C>T GRCh38
NC_000002.11:g.48982925C>T , CM000664.1:g.48982925C>T GRCh37
NC_000002.10:g.48836429C>T NCBI36
NG_008193.1:g.4956G>A
NG_033050.1:g.230862C>T
NG_008193.2:g.4956G>A
NG_033050.2:g.230862C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000402114.6:c.3442-20494C>T ENSP00000385701.1:n.3442-20494C>T
NM_001198593.1:c.3442-20494C>T NP_001185522.1:n.3442-20494C>T
NM_001198593.2:c.3442-20494C>T NP_001185522.1:n.3442-20494C>T
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