Canonical Allele Identifier: CA16105567
Gene:

Linked Data

dbSNP Id: rs7577126
gnomAD v2: 2-88315876-A-C
gnomAD v3: 2-88016357-A-C
gnomAD v4: 2-88016357-A-C
MyVariant Identifiers: chr2:g.88315876A>C (hg19) chr2:g.88315876_88315913delinsCGGTGCACCGTTTCTGGAAGTACTGCAATACCAAATCG (hg19) chr2:g.88016357A>C (hg38) chr2:g.88016357_88016394delinsCGGTGCACCGTTTCTGGAAGTACTGCAATACCAAATCG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88016357A>C , CM000664.2:g.88016357A>C GRCh38
NC_000002.11:g.88315876A>C , CM000664.1:g.88315876A>C GRCh37
NC_000002.10:g.88096991A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_940335.3:n.702A>C
XR_940336.3:n.702A>C
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