Canonical Allele Identifier: CA1046444620

Gene: TGFBR2

Linked Data

• dbSNP Id: rs1698838027
• gnomAD v3: 3-30649405-TAC-T
• gnomAD v4: 3-30649405-TAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30649408_30649409del , CM000665.2:g.30649408_30649409del	GRCh38
NC_000003.11:g.30690900_30690901del , CM000665.1:g.30690900_30690901del	GRCh37
NC_000003.10:g.30665904_30665905del	NCBI36
NG_007490.1:g.47907_47908del , LRG_779:g.47907_47908del

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.264-862_264-861del MANE Select	ENSP00000295754.5:n.264-862_264-861del
ENST00000672866.1:n.1860-862_1860-861del
ENST00000673250.1:n.388-862_388-861del
ENST00000295754.9:c.264-862_264-861del	ENSP00000295754.5:n.264-862_264-861del
ENST00000359013.4:c.339-862_339-861del	ENSP00000351905.4:n.339-862_339-861del
NM_001024847.2:c.339-862_339-861del , LRG_779t1:c.339-862_339-861del	NP_001020018.1:n.339-862_339-861del
NM_003242.5:c.264-862_264-861del	NP_003233.4:n.264-862_264-861del
XM_011534043.1:c.291-862_291-861del	XP_011532345.1:n.291-862_291-861del
XM_011534044.1:c.216-862_216-861del	XP_011532346.1:n.216-862_216-861del
XM_011534045.1:c.159-862_159-861del	XP_011532347.1:n.159-862_159-861del
XM_011534043.2:c.291-862_291-861del	XP_011532345.1:n.291-862_291-861del
XM_011534045.3:c.159-862_159-861del	XP_011532347.1:n.159-862_159-861del
XM_017007106.1:c.159-862_159-861del	XP_016862595.1:n.159-862_159-861del
NM_003242.6:c.264-862_264-861del MANE Select	NP_003233.4:n.264-862_264-861del