Canonical Allele Identifier: CA046127
Gene: TGFBR2 HGNC NCBI

Linked Data

dbSNP Id: rs780939353
gnomAD v2: 3-30715568-A-G
gnomAD v4: 3-30674076-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30674076A>G , CM000665.2:g.30674076A>G GRCh38
NC_000003.11:g.30715568A>G , CM000665.1:g.30715568A>G GRCh37
NC_000003.10:g.30690572A>G NCBI36
NG_007490.1:g.72575A>G , LRG_779:g.72575A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.1255-29A>G MANE Select ENSP00000295754.5:n.1255-29A>G
ENST00000672866.1:n.2851-29A>G
ENST00000673203.1:n.104A>G
ENST00000295754.9:c.1255-29A>G ENSP00000295754.5:n.1255-29A>G
ENST00000359013.4:c.1330-29A>G ENSP00000351905.4:n.1330-29A>G
NM_001024847.2:c.1330-29A>G , LRG_779t1:c.1330-29A>G NP_001020018.1:n.1330-29A>G
NM_003242.5:c.1255-29A>G NP_003233.4:n.1255-29A>G
XM_011534043.1:c.1282-29A>G XP_011532345.1:n.1282-29A>G
XM_011534044.1:c.1207-29A>G XP_011532346.1:n.1207-29A>G
XM_011534045.1:c.1150-29A>G XP_011532347.1:n.1150-29A>G
XM_011534043.2:c.1282-29A>G XP_011532345.1:n.1282-29A>G
XM_011534045.3:c.1150-29A>G XP_011532347.1:n.1150-29A>G
XM_017007106.1:c.1150-29A>G XP_016862595.1:n.1150-29A>G
NM_003242.6:c.1255-29A>G MANE Select NP_003233.4:n.1255-29A>G