Canonical Allele Identifier: CA2664868066
Gene: TGFBR2 HGNC NCBI

Linked Data

gnomAD v4: 3-30691337-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30691337A>G , CM000665.2:g.30691337A>G GRCh38
NC_000003.11:g.30732829A>G , CM000665.1:g.30732829A>G GRCh37
NC_000003.10:g.30707833A>G NCBI36
NG_007490.1:g.89836A>G , LRG_779:g.89836A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000295754.10:c.1525-83A>G MANE Select ENSP00000295754.5:n.1525-83A>G
ENST00000672050.1:n.409-83A>G
ENST00000672866.1:n.3121-83A>G
ENST00000673203.1:n.403-83A>G
ENST00000295754.9:c.1525-83A>G ENSP00000295754.5:n.1525-83A>G
ENST00000359013.4:c.1600-83A>G ENSP00000351905.4:n.1600-83A>G
NM_001024847.2:c.1600-83A>G , LRG_779t1:c.1600-83A>G NP_001020018.1:n.1600-83A>G
NM_003242.5:c.1525-83A>G NP_003233.4:n.1525-83A>G
XM_011534043.1:c.1552-83A>G XP_011532345.1:n.1552-83A>G
XM_011534044.1:c.1477-83A>G XP_011532346.1:n.1477-83A>G
XM_011534045.1:c.1420-83A>G XP_011532347.1:n.1420-83A>G
XM_011534043.2:c.1552-83A>G XP_011532345.1:n.1552-83A>G
XM_011534045.3:c.1420-83A>G XP_011532347.1:n.1420-83A>G
XM_017007106.1:c.1420-83A>G XP_016862595.1:n.1420-83A>G
NM_003242.6:c.1525-83A>G MANE Select NP_003233.4:n.1525-83A>G