Canonical Allele Identifier: CA1046445183
Gene: TGFBR2 HGNC NCBI

Linked Data

dbSNP Id: rs1697919389
gnomAD v3: 3-30606483-G-A
gnomAD v4: 3-30606483-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30606483G>A , CM000665.2:g.30606483G>A GRCh38
NC_000003.11:g.30647975G>A , CM000665.1:g.30647975G>A GRCh37
NC_000003.10:g.30622979G>A NCBI36
NG_007490.1:g.4982G>A , LRG_779:g.4982G>A

Transcript Alleles

HGVS Amino-acid change
XR_940691.1:n.3C>T
XM_011534045.3:c.-122G>A XP_011532347.1:n.-122G>A