Canonical Allele Identifier: CA46769380
Gene:

Linked Data

dbSNP Id: rs191026451
gnomAD v2: 2-41761563-T-C
gnomAD v3: 2-41534423-T-C
gnomAD v4: 2-41534423-T-C
MyVariant Identifiers: chr2:g.41761563T>C (hg19) chr2:g.41534423T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.41534423T>C , CM000664.2:g.41534423T>C GRCh38
NC_000002.11:g.41761563T>C , CM000664.1:g.41761563T>C GRCh37
NC_000002.10:g.41615067T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_939996.1:n.181+3303A>G
XR_939997.1:n.146+3303A>G
XR_939997.2:n.9529+3303A>G
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