Canonical Allele Identifier: CA2664866463
Gene: TGFBR2 HGNC NCBI

Linked Data

gnomAD v4: 3-30606651-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30606651A>G , CM000665.2:g.30606651A>G GRCh38
NC_000003.11:g.30648143A>G , CM000665.1:g.30648143A>G GRCh37
NC_000003.10:g.30623147A>G NCBI36
NG_007490.1:g.5150A>G , LRG_779:g.5150A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.-233A>G MANE Select ENSP00000295754.5:n.-233A>G
ENST00000295754.9:c.-233A>G ENSP00000295754.5:n.-233A>G
ENST00000359013.4:c.-233A>G ENSP00000351905.4:n.-233A>G
NM_001024847.2:c.-233A>G , LRG_779t1:c.-233A>G NP_001020018.1:n.-233A>G
NM_003242.5:c.-233A>G NP_003233.4:n.-233A>G
XM_011534045.1:c.-12+58A>G XP_011532347.1:n.-12+58A>G
XM_011534045.3:c.-12+58A>G XP_011532347.1:n.-12+58A>G
NM_003242.6:c.-233A>G MANE Select NP_003233.4:n.-233A>G