Canonical Allele Identifier: CA42496597
Gene:
MyVariant.info:
GRCh38 chr2:g.9119469T>C
GRCh37 chr2:g.9259598T>C
gnomAD v2:
2:9259598 T / C
gnomAD v3:
2:9119469 T / C
gnomAD v4:
chr2-9119469-T-C
Joint Max Group AF 0.81626648 (EAS)
Genomes Max Group AF 0.81626648 (EAS)
dbSNP:
9636252
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.9119469T>C , CM000664.2:g.9119469T>C GRCh38
NC_000002.11:g.9259598T>C , CM000664.1:g.9259598T>C GRCh37
NC_000002.10:g.9177049T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_922770.1:n.831+795A>G
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Search 100 bp 3'