Canonical Allele Identifier: CA535280778
Gene:

Linked Data

dbSNP Id: rs1425643528
gnomAD v2: 2-118837158-T-C
MyVariant Identifiers: chr2:g.118837158T>C (hg19) chr2:g.118079582T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.118079582T>C , CM000664.2:g.118079582T>C GRCh38
NC_000002.11:g.118837158T>C , CM000664.1:g.118837158T>C GRCh37
NC_000002.10:g.118553628T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XM_011512305.1:c.697-2050A>G XP_011510607.1:n.697-2050A>G
XR_001739662.2:n.138+8669A>G
Search 100 bp 5'
Search 100 bp 3'