Canonical Allele Identifier: CA46769392
Gene:

Linked Data

dbSNP Id: rs547158065
gnomAD v2: 2-41761580-G-C
gnomAD v3: 2-41534440-G-C
gnomAD v4: 2-41534440-G-C
MyVariant Identifiers: chr2:g.41761580G>C (hg19) chr2:g.41534440G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.41534440G>C , CM000664.2:g.41534440G>C GRCh38
NC_000002.11:g.41761580G>C , CM000664.1:g.41761580G>C GRCh37
NC_000002.10:g.41615084G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_939996.1:n.181+3286C>G
XR_939997.1:n.146+3286C>G
XR_939997.2:n.9529+3286C>G
Search 100 bp 5'
Search 100 bp 3'