Canonical Allele Identifier: CA2664866535
Gene: TGFBR2 HGNC NCBI

Linked Data

gnomAD v4: 3-30606716-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30606716A>T , CM000665.2:g.30606716A>T GRCh38
NC_000003.11:g.30648208A>T , CM000665.1:g.30648208A>T GRCh37
NC_000003.10:g.30623212A>T NCBI36
NG_007490.1:g.5215A>T , LRG_779:g.5215A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.-168A>T MANE Select ENSP00000295754.5:n.-168A>T
ENST00000295754.9:c.-168A>T ENSP00000295754.5:n.-168A>T
ENST00000359013.4:c.-168A>T ENSP00000351905.4:n.-168A>T
NM_001024847.2:c.-168A>T , LRG_779t1:c.-168A>T NP_001020018.1:n.-168A>T
NM_003242.5:c.-168A>T NP_003233.4:n.-168A>T
XM_011534045.1:c.-12+123A>T XP_011532347.1:n.-12+123A>T
XM_011534045.3:c.-12+123A>T XP_011532347.1:n.-12+123A>T
NM_003242.6:c.-168A>T MANE Select NP_003233.4:n.-168A>T