Canonical Allele Identifier: CA532559315
Gene: STON1-GTF2A1L HGNC NCBI

Linked Data

dbSNP Id: rs1436723344
gnomAD v2: 2-48982931-T-C
gnomAD v3: 2-48755792-T-C
gnomAD v4: 2-48755792-T-C
MyVariant Identifiers: chr2:g.48982931T>C (hg19) chr2:g.48755792T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48755792T>C , CM000664.2:g.48755792T>C GRCh38
NC_000002.11:g.48982931T>C , CM000664.1:g.48982931T>C GRCh37
NC_000002.10:g.48836435T>C NCBI36
NG_008193.1:g.4950A>G
NG_033050.1:g.230868T>C
NG_008193.2:g.4950A>G
NG_033050.2:g.230868T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000402114.6:c.3442-20488T>C ENSP00000385701.1:n.3442-20488T>C
NM_001198593.1:c.3442-20488T>C NP_001185522.1:n.3442-20488T>C
NM_001198593.2:c.3442-20488T>C NP_001185522.1:n.3442-20488T>C
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