Canonical Allele Identifier: CA539586561
Gene:

Linked Data

dbSNP Id: rs1441137603
gnomAD v2: 2-219081348-C-T
gnomAD v3: 2-218216625-C-T
gnomAD v4: 2-218216625-C-T
MyVariant Identifiers: chr2:g.219081348C>T (hg19) chr2:g.218216625C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218216625C>T , CM000664.2:g.218216625C>T GRCh38
NC_000002.11:g.219081348C>T , CM000664.1:g.219081348C>T GRCh37
NC_000002.10:g.218789593C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_241416.2:n.320G>A
XR_923908.1:n.317G>A
Search 100 bp 5'
Search 100 bp 3'