Canonical Allele Identifier: CA769618568

Gene: STON1-GTF2A1L

Linked Data

• dbSNP Id: rs991855799
• gnomAD v3: 2-48755765-A-C
• gnomAD v4: 2-48755765-A-C
• MyVariant Identifiers: chr2:g.48982904A>C (hg19) ; chr2:g.48755765A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48755765A>C , CM000664.2:g.48755765A>C	GRCh38
NC_000002.11:g.48982904A>C , CM000664.1:g.48982904A>C	GRCh37
NC_000002.10:g.48836408A>C	NCBI36
NG_008193.1:g.4977T>G
NG_033050.1:g.230841A>C
NG_008193.2:g.4977T>G
NG_033050.2:g.230841A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402114.6:c.3442-20515A>C	ENSP00000385701.1:n.3442-20515A>C
NM_001198593.1:c.3442-20515A>C	NP_001185522.1:n.3442-20515A>C
NM_001198593.2:c.3442-20515A>C	NP_001185522.1:n.3442-20515A>C