Canonical Allele Identifier: CA2664868060
Gene: TGFBR2 HGNC NCBI

Linked Data

gnomAD v4: 3-30691328-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30691328G>T , CM000665.2:g.30691328G>T GRCh38
NC_000003.11:g.30732820G>T , CM000665.1:g.30732820G>T GRCh37
NC_000003.10:g.30707824G>T NCBI36
NG_007490.1:g.89827G>T , LRG_779:g.89827G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000295754.10:c.1525-92G>T MANE Select ENSP00000295754.5:n.1525-92G>T
ENST00000672050.1:n.409-92G>T
ENST00000672866.1:n.3121-92G>T
ENST00000673203.1:n.403-92G>T
ENST00000295754.9:c.1525-92G>T ENSP00000295754.5:n.1525-92G>T
ENST00000359013.4:c.1600-92G>T ENSP00000351905.4:n.1600-92G>T
NM_001024847.2:c.1600-92G>T , LRG_779t1:c.1600-92G>T NP_001020018.1:n.1600-92G>T
NM_003242.5:c.1525-92G>T NP_003233.4:n.1525-92G>T
XM_011534043.1:c.1552-92G>T XP_011532345.1:n.1552-92G>T
XM_011534044.1:c.1477-92G>T XP_011532346.1:n.1477-92G>T
XM_011534045.1:c.1420-92G>T XP_011532347.1:n.1420-92G>T
XM_011534043.2:c.1552-92G>T XP_011532345.1:n.1552-92G>T
XM_011534045.3:c.1420-92G>T XP_011532347.1:n.1420-92G>T
XM_017007106.1:c.1420-92G>T XP_016862595.1:n.1420-92G>T
NM_003242.6:c.1525-92G>T MANE Select NP_003233.4:n.1525-92G>T