Canonical Allele Identifier: CA765624958
Gene:

Linked Data

dbSNP Id: rs1179016380
MyVariant Identifiers: chr2:g.227020723T>C (hg19) chr2:g.226156007T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.226156007T>C , CM000664.2:g.226156007T>C GRCh38
NC_000002.11:g.227020723T>C , CM000664.1:g.227020723T>C GRCh37
NC_000002.10:g.226728967T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_046102.1:n.293-8381T>C
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