Canonical Allele Identifier: CA763112130
Gene:

Linked Data

dbSNP Id: rs1383190730
gnomAD v3: 2-198767738-T-G
gnomAD v4: 2-198767738-T-G
MyVariant Identifiers: chr2:g.199632462T>G (hg19) chr2:g.198767738T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.198767738T>G , CM000664.2:g.198767738T>G GRCh38
NC_000002.11:g.199632462T>G , CM000664.1:g.199632462T>G GRCh37
NC_000002.10:g.199340707T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_923758.1:n.72+4521A>C
XR_923759.1:n.72+4521A>C
XR_923760.1:n.72+4521A>C
XR_923759.2:n.72+4521A>C
XR_923760.2:n.72+4521A>C
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