Canonical Allele Identifier: CA535757878
Gene:

Linked Data

dbSNP Id: rs1321544022
gnomAD v2: 2-121089928-C-T
gnomAD v3: 2-120332352-C-T
gnomAD v4: 2-120332352-C-T
MyVariant Identifiers: chr2:g.121089928C>T (hg19) chr2:g.120332352C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.120332352C>T , CM000664.2:g.120332352C>T GRCh38
NC_000002.11:g.121089928C>T , CM000664.1:g.121089928C>T GRCh37
NC_000002.10:g.120806398C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_011512307.1:c.141+3546C>T XP_011510609.1:n.141+3546C>T
Search 100 bp 5'
Search 100 bp 3'