Canonical Allele Identifier: CA322276
Gene: TGFBR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 213946
dbSNP Id: rs370708687
gnomAD v3: 3-30691441-A-T
gnomAD v4: 3-30691441-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30691441A>T , CM000665.2:g.30691441A>T GRCh38
NC_000003.11:g.30732933A>T , CM000665.1:g.30732933A>T GRCh37
NC_000003.10:g.30707937A>T NCBI36
NG_007490.1:g.89940A>T , LRG_779:g.89940A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.1546A>T MANE Select ENSP00000295754.5:p.Thr516Ser
ENST00000672050.1:n.430A>T
ENST00000672866.1:n.3142A>T
ENST00000673203.1:n.424A>T
ENST00000295754.9:c.1546A>T ENSP00000295754.5:p.Thr516Ser
ENST00000359013.4:c.1621A>T ENSP00000351905.4:p.Thr541Ser
NM_001024847.2:c.1621A>T , LRG_779t1:c.1621A>T NP_001020018.1:p.Thr541Ser
NM_003242.5:c.1546A>T NP_003233.4:p.Thr516Ser
XM_011534043.1:c.1573A>T XP_011532345.1:p.Thr525Ser
XM_011534044.1:c.1498A>T XP_011532346.1:p.Thr500Ser
XM_011534045.1:c.1441A>T XP_011532347.1:p.Thr481Ser
XM_011534043.2:c.1573A>T XP_011532345.1:p.Thr525Ser
XM_011534045.3:c.1441A>T XP_011532347.1:p.Thr481Ser
XM_017007106.1:c.1441A>T XP_016862595.1:p.Thr481Ser
NM_003242.6:c.1546A>T MANE Select NP_003233.4:p.Thr516Ser