Canonical Allele Identifier: CA756632571
Gene:

Linked Data

dbSNP Id: rs1172447354
gnomAD v3: 2-127431554-C-T
gnomAD v4: 2-127431554-C-T
MyVariant Identifiers: chr2:g.128189130C>T (hg19) chr2:g.127431554C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127431554C>T , CM000664.2:g.127431554C>T GRCh38
NC_000002.11:g.128189130C>T , CM000664.1:g.128189130C>T GRCh37
NC_000002.10:g.127905600C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_923313.1:n.1331+113G>A
XR_001739705.1:n.3607-3290G>A
XR_923313.2:n.4042+113G>A
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