Canonical Allele Identifier: CA020640
Gene: TGFBR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 12517
dbSNP Id: rs104893817

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30674123A>G , CM000665.2:g.30674123A>G GRCh38
NC_000003.11:g.30715615A>G , CM000665.1:g.30715615A>G GRCh37
NC_000003.10:g.30690619A>G NCBI36
NG_007490.1:g.72622A>G , LRG_779:g.72622A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.1273A>G MANE Select ENSP00000295754.5:p.Met425Val
ENST00000672866.1:n.2869A>G
ENST00000673203.1:n.151A>G
ENST00000295754.9:c.1273A>G ENSP00000295754.5:p.Met425Val
ENST00000359013.4:c.1348A>G ENSP00000351905.4:p.Met450Val
NM_001024847.2:c.1348A>G , LRG_779t1:c.1348A>G NP_001020018.1:p.Met450Val
NM_003242.5:c.1273A>G NP_003233.4:p.Met425Val
XM_011534043.1:c.1300A>G XP_011532345.1:p.Met434Val
XM_011534044.1:c.1225A>G XP_011532346.1:p.Met409Val
XM_011534045.1:c.1168A>G XP_011532347.1:p.Met390Val
XM_011534043.2:c.1300A>G XP_011532345.1:p.Met434Val
XM_011534045.3:c.1168A>G XP_011532347.1:p.Met390Val
XM_017007106.1:c.1168A>G XP_016862595.1:p.Met390Val
NM_003242.6:c.1273A>G MANE Select NP_003233.4:p.Met425Val