Canonical Allele Identifier: CA11216547
Gene:

Linked Data

dbSNP Id: rs10490626
gnomAD v2: 2-118835841-G-A
gnomAD v3: 2-118078265-G-A
gnomAD v4: 2-118078265-G-A
MyVariant Identifiers: chr2:g.118835841G>A (hg19) chr2:g.118078265G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.118078265G>A , CM000664.2:g.118078265G>A GRCh38
NC_000002.11:g.118835841G>A , CM000664.1:g.118835841G>A GRCh37
NC_000002.10:g.118552311G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XM_011512305.1:c.697-733C>T XP_011510607.1:n.697-733C>T
XR_001739662.2:n.138+9986C>T
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