Canonical Allele Identifier: CA766959604
Gene:

Linked Data

dbSNP Id: rs1471401153
gnomAD v3: 2-240868472-C-T
gnomAD v4: 2-240868472-C-T
MyVariant Identifiers: chr2:g.241807889C>T (hg19) chr2:g.240868472C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240868472C>T , CM000664.2:g.240868472C>T GRCh38
NC_000002.11:g.241807889C>T , CM000664.1:g.241807889C>T GRCh37
NC_000002.10:g.241456562C>T NCBI36
NG_008005.1:g.4728C>T

Transcript Alleles

HGVS Amino-acid Change
XR_924060.1:n.405+1761G>A
Search 100 bp 5'
Search 100 bp 3'