Canonical Allele Identifier: CA531234619
Gene:

Linked Data

dbSNP Id: rs1305459270
gnomAD v2: 2-16639623-A-T
gnomAD v3: 2-16458355-A-T
gnomAD v4: 2-16458355-A-T
MyVariant Identifiers: chr2:g.16639623A>T (hg19) chr2:g.16458355A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.16458355A>T , CM000664.2:g.16458355A>T GRCh38
NC_000002.11:g.16639623A>T , CM000664.1:g.16639623A>T GRCh37
NC_000002.10:g.16503104A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_939752.1:n.396-3261T>A
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