Canonical Allele Identifier: CA532559319
Gene: STON1-GTF2A1L HGNC NCBI

Linked Data

dbSNP Id: rs1384725732
gnomAD v2: 2-48982937-C-A
gnomAD v3: 2-48755798-C-A
gnomAD v4: 2-48755798-C-A
MyVariant Identifiers: chr2:g.48982937C>A (hg19) chr2:g.48755798C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48755798C>A , CM000664.2:g.48755798C>A GRCh38
NC_000002.11:g.48982937C>A , CM000664.1:g.48982937C>A GRCh37
NC_000002.10:g.48836441C>A NCBI36
NG_008193.1:g.4944G>T
NG_033050.1:g.230874C>A
NG_008193.2:g.4944G>T
NG_033050.2:g.230874C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000402114.6:c.3442-20482C>A ENSP00000385701.1:n.3442-20482C>A
NM_001198593.1:c.3442-20482C>A NP_001185522.1:n.3442-20482C>A
NM_001198593.2:c.3442-20482C>A NP_001185522.1:n.3442-20482C>A
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