Canonical Allele Identifier: CA54579361
Gene:

Linked Data

dbSNP Id: rs544134870
gnomAD v3: 2-118079830-T-C
gnomAD v4: 2-118079830-T-C
MyVariant Identifiers: chr2:g.118837406T>C (hg19) chr2:g.118079830T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.118079830T>C , CM000664.2:g.118079830T>C GRCh38
NC_000002.11:g.118837406T>C , CM000664.1:g.118837406T>C GRCh37
NC_000002.10:g.118553876T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_011512305.1:c.697-2298A>G XP_011510607.1:n.697-2298A>G
XR_001739662.2:n.138+8421A>G
Search 100 bp 5'
Search 100 bp 3'