Canonical Allele Identifier: CA756632601
Gene:

Linked Data

dbSNP Id: rs1265979742
gnomAD v3: 2-127431613-C-T
gnomAD v4: 2-127431613-C-T
MyVariant Identifiers: chr2:g.128189189C>T (hg19) chr2:g.127431613C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127431613C>T , CM000664.2:g.127431613C>T GRCh38
NC_000002.11:g.128189189C>T , CM000664.1:g.128189189C>T GRCh37
NC_000002.10:g.127905659C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_923313.1:n.1331+54G>A
XR_001739705.1:n.3607-3349G>A
XR_923313.2:n.4042+54G>A
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