Canonical Allele Identifier: CA768889966
Gene:

Linked Data

dbSNP Id: rs1220358606
gnomAD v3: 2-41534706-A-G
gnomAD v4: 2-41534706-A-G
MyVariant Identifiers: chr2:g.41761846A>G (hg19) chr2:g.41534706A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.41534706A>G , CM000664.2:g.41534706A>G GRCh38
NC_000002.11:g.41761846A>G , CM000664.1:g.41761846A>G GRCh37
NC_000002.10:g.41615350A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_939996.1:n.181+3020T>C
XR_939997.1:n.146+3020T>C
XR_939997.2:n.9529+3020T>C
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