Canonical Allele Identifier: CA2577536131
Gene: TGFBR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30623183T>A , CM000665.2:g.30623183T>A GRCh38
NC_000003.11:g.30664675T>A , CM000665.1:g.30664675T>A GRCh37
NC_000003.10:g.30639679T>A NCBI36
NG_007490.1:g.21682T>A , LRG_779:g.21682T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.94+16206T>A MANE Select ENSP00000295754.5:n.94+16206T>A
ENST00000673250.1:n.144-16T>A
ENST00000295754.9:c.94+16206T>A ENSP00000295754.5:n.94+16206T>A
ENST00000359013.4:c.95-16T>A ENSP00000351905.4:n.95-16T>A
NM_001024847.2:c.95-16T>A , LRG_779t1:c.95-16T>A NP_001020018.1:n.95-16T>A
NM_003242.5:c.94+16206T>A NP_003233.4:n.94+16206T>A
XM_011534043.1:c.47-16T>A XP_011532345.1:n.47-16T>A
XM_011534044.1:c.46+8477T>A XP_011532346.1:n.46+8477T>A
XM_011534045.1:c.-12+16590T>A XP_011532347.1:n.-12+16590T>A
XM_011534043.2:c.47-16T>A XP_011532345.1:n.47-16T>A
XM_011534045.3:c.-12+16590T>A XP_011532347.1:n.-12+16590T>A
NM_003242.6:c.94+16206T>A MANE Select NP_003233.4:n.94+16206T>A