Canonical Allele Identifier: CA1398348
Gene: TGFB2 HGNC NCBI

Linked Data

dbSNP Id: rs748018397
ExAC: 1:218520020 C / CT
gnomAD v2: 1-218520020-C-CT
gnomAD v3: 1-218346678-C-CT
gnomAD v4: 1-218346678-C-CT
MyVariant Identifiers: chr1:g.218520021_218520022insT (hg19) chr1:g.218520020_218520021insT (hg19) chr1:g.218346679_218346680insT (hg38) chr1:g.218346678_218346679insT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.218346686dup , CM000663.2:g.218346686dup GRCh38
NC_000001.10:g.218520028dup , CM000663.1:g.218520028dup GRCh37
NC_000001.9:g.216586651dup NCBI36
NG_027721.1:g.6353dup
NG_027721.2:g.6353dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000366930.9:c.-16dup MANE Select ENSP00000355897.4:n.-16dup
ENST00000366929.4:c.-16dup ENSP00000355896.4:n.-16dup
ENST00000366930.8:c.-16dup ENSP00000355897.4:n.-16dup
NM_001135599.2:c.-16dup NP_001129071.1:n.-16dup
NM_003238.3:c.-16dup NP_003229.1:n.-16dup
NM_001135599.3:c.-16dup NP_001129071.1:n.-16dup
NM_003238.4:c.-16dup NP_003229.1:n.-16dup
NR_138148.1:n.1403dup
NR_138149.1:n.1403dup
NM_003238.5:c.-16dup NP_003229.1:n.-16dup
NM_003238.6:c.-16dup MANE Select NP_003229.1:n.-16dup
NM_001135599.4:c.-16dup NP_001129071.1:n.-16dup
NR_138148.2:n.1351dup
NR_138149.2:n.1351dup
Search 100 bp 5'
Search 100 bp 3'