Canonical Allele Identifier: CA1354844329
Gene: TGFBR2 HGNC NCBI

Linked Data

dbSNP Id: rs1697978441

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30608609_30608610del , CM000665.2:g.30608609_30608610del GRCh38
NC_000003.11:g.30650101_30650102del , CM000665.1:g.30650101_30650102del GRCh37
NC_000003.10:g.30625105_30625106del NCBI36
NG_007490.1:g.7108_7109del , LRG_779:g.7108_7109del

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.94+1632_94+1633del MANE Select ENSP00000295754.5:n.94+1632_94+1633del
ENST00000295754.9:c.94+1632_94+1633del ENSP00000295754.5:n.94+1632_94+1633del
ENST00000359013.4:c.94+1632_94+1633del ENSP00000351905.4:n.94+1632_94+1633del
NM_001024847.2:c.94+1632_94+1633del , LRG_779t1:c.94+1632_94+1633del NP_001020018.1:n.94+1632_94+1633del
NM_003242.5:c.94+1632_94+1633del NP_003233.4:n.94+1632_94+1633del
XM_011534045.1:c.-12+2016_-12+2017del XP_011532347.1:n.-12+2016_-12+2017del
XM_011534045.3:c.-12+2016_-12+2017del XP_011532347.1:n.-12+2016_-12+2017del
NM_003242.6:c.94+1632_94+1633del MANE Select NP_003233.4:n.94+1632_94+1633del