Canonical Allele Identifier: CA537632892
Gene:

Linked Data

dbSNP Id: rs1241283194
gnomAD v2: 2-169116961-T-C
gnomAD v3: 2-168260451-T-C
gnomAD v4: 2-168260451-T-C
MyVariant Identifiers: chr2:g.169116961T>C (hg19) chr2:g.168260451T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.168260451T>C , CM000664.2:g.168260451T>C GRCh38
NC_000002.11:g.169116961T>C , CM000664.1:g.169116961T>C GRCh37
NC_000002.10:g.168825207T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001739763.1:n.912-4645T>C
XR_001739764.1:n.318-4645T>C
XR_001739765.1:n.436-4645T>C
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