Canonical Allele Identifier: CA54579309
Gene:

Linked Data

dbSNP Id: rs17047718
gnomAD v2: 2-118837312-A-G
gnomAD v3: 2-118079736-A-G
gnomAD v4: 2-118079736-A-G
MyVariant Identifiers: chr2:g.118837312A>G (hg19) chr2:g.118079736A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.118079736A>G , CM000664.2:g.118079736A>G GRCh38
NC_000002.11:g.118837312A>G , CM000664.1:g.118837312A>G GRCh37
NC_000002.10:g.118553782A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XM_011512305.1:c.697-2204T>C XP_011510607.1:n.697-2204T>C
XR_001739662.2:n.138+8515T>C
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