Canonical Allele Identifier: CA538890444
Gene:

Linked Data

dbSNP Id: rs1291324726
gnomAD v2: 2-200897833-A-C
gnomAD v3: 2-200033110-A-C
gnomAD v4: 2-200033110-A-C
MyVariant Identifiers: chr2:g.200897833A>C (hg19) chr2:g.200033110A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.200033110A>C , CM000664.2:g.200033110A>C GRCh38
NC_000002.11:g.200897833A>C , CM000664.1:g.200897833A>C GRCh37
NC_000002.10:g.200606078A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_923778.1:n.178-22214T>G
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Search 100 bp 3'