Canonical Allele Identifier: CA542110110
Gene: TGFBR2 HGNC NCBI

Linked Data

dbSNP Id: rs1310679183
gnomAD v2: 3-30648182-G-T
gnomAD v3: 3-30606690-G-T
gnomAD v4: 3-30606690-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30606690G>T , CM000665.2:g.30606690G>T GRCh38
NC_000003.11:g.30648182G>T , CM000665.1:g.30648182G>T GRCh37
NC_000003.10:g.30623186G>T NCBI36
NG_007490.1:g.5189G>T , LRG_779:g.5189G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.-194G>T MANE Select ENSP00000295754.5:n.-194G>T
ENST00000295754.9:c.-194G>T ENSP00000295754.5:n.-194G>T
ENST00000359013.4:c.-194G>T ENSP00000351905.4:n.-194G>T
NM_001024847.2:c.-194G>T , LRG_779t1:c.-194G>T NP_001020018.1:n.-194G>T
NM_003242.5:c.-194G>T NP_003233.4:n.-194G>T
XM_011534045.1:c.-12+97G>T XP_011532347.1:n.-12+97G>T
XM_011534045.3:c.-12+97G>T XP_011532347.1:n.-12+97G>T
NM_003242.6:c.-194G>T MANE Select NP_003233.4:n.-194G>T