Canonical Allele Identifier: CA2664866676
Gene: TGFBR2 HGNC NCBI

Linked Data

gnomAD v4: 3-30606815-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30606815G>T , CM000665.2:g.30606815G>T GRCh38
NC_000003.11:g.30648307G>T , CM000665.1:g.30648307G>T GRCh37
NC_000003.10:g.30623311G>T NCBI36
NG_007490.1:g.5314G>T , LRG_779:g.5314G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.-69G>T MANE Select ENSP00000295754.5:n.-69G>T
ENST00000295754.9:c.-69G>T ENSP00000295754.5:n.-69G>T
ENST00000359013.4:c.-69G>T ENSP00000351905.4:n.-69G>T
NM_001024847.2:c.-69G>T , LRG_779t1:c.-69G>T NP_001020018.1:n.-69G>T
NM_003242.5:c.-69G>T NP_003233.4:n.-69G>T
XM_011534045.1:c.-12+222G>T XP_011532347.1:n.-12+222G>T
XM_011534045.3:c.-12+222G>T XP_011532347.1:n.-12+222G>T
NM_003242.6:c.-69G>T MANE Select NP_003233.4:n.-69G>T