Canonical Allele Identifier: CA42746909
Gene:

Linked Data

dbSNP Id: rs16857178
gnomAD v2: 2-11257505-G-A
gnomAD v3: 2-11117379-G-A
gnomAD v4: 2-11117379-G-A
MyVariant Identifiers: chr2:g.11257505G>A (hg19) chr2:g.11117379G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.11117379G>A , CM000664.2:g.11117379G>A GRCh38
NC_000002.11:g.11257505G>A , CM000664.1:g.11257505G>A GRCh37
NC_000002.10:g.11174956G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
NR_040080.1:n.984+3384C>T
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