Canonical Allele Identifier: CA049729
Gene: TGFBR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 618429
ClinVar RCV Id: RCV000756780 RCV001180342 RCV003892684 RCV003999889 RCV004027135
dbSNP Id: rs758864131
ExAC: 3:30648381 T / C
gnomAD v2: 3-30648381-T-C
gnomAD v3: 3-30606889-T-C
gnomAD v4: 3-30606889-T-C
MyVariant Identifiers: chr3:g.30648381T>C (hg19) chr3:g.30606889T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30606889T>C , CM000665.2:g.30606889T>C GRCh38
NC_000003.11:g.30648381T>C , CM000665.1:g.30648381T>C GRCh37
NC_000003.10:g.30623385T>C NCBI36
NG_007490.1:g.5388T>C , LRG_779:g.5388T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.6T>C MANE Select ENSP00000295754.5:p.Gly2=
ENST00000295754.9:c.6T>C ENSP00000295754.5:p.Gly2=
ENST00000359013.4:c.6T>C ENSP00000351905.4:p.Gly2=
NM_001024847.2:c.6T>C , LRG_779t1:c.6T>C NP_001020018.1:p.Gly2=
NM_003242.5:c.6T>C NP_003233.4:p.Gly2=
XM_011534045.1:c.-12+296T>C XP_011532347.1:n.-12+296T>C
XM_011534045.3:c.-12+296T>C XP_011532347.1:n.-12+296T>C
NM_003242.6:c.6T>C MANE Select NP_003233.4:p.Gly2=
Search 100 bp 5'
Search 100 bp 3'