Canonical Allele Identifier: CA906197359

Gene: TGFBR2

Linked Data

• dbSNP Id: rs1169147039
• gnomAD v3: 3-30649404-G-GTACAC
• gnomAD v4: 3-30649404-G-GTACAC
• MyVariant Identifiers: chr3:g.30690896_30690897insTACAC (hg19) ; chr3:g.30649404_30649405insTACAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30649406_30649410dup , CM000665.2:g.30649406_30649410dup	GRCh38
NC_000003.11:g.30690898_30690902dup , CM000665.1:g.30690898_30690902dup	GRCh37
NC_000003.10:g.30665902_30665906dup	NCBI36
NG_007490.1:g.47905_47909dup , LRG_779:g.47905_47909dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.264-864_264-860dup MANE Select	ENSP00000295754.5:n.264-864_264-860dup
ENST00000672866.1:n.1860-864_1860-860dup
ENST00000673250.1:n.388-864_388-860dup
ENST00000295754.9:c.264-864_264-860dup	ENSP00000295754.5:n.264-864_264-860dup
ENST00000359013.4:c.339-864_339-860dup	ENSP00000351905.4:n.339-864_339-860dup
NM_001024847.2:c.339-864_339-860dup , LRG_779t1:c.339-864_339-860dup	NP_001020018.1:n.339-864_339-860dup
NM_003242.5:c.264-864_264-860dup	NP_003233.4:n.264-864_264-860dup
XM_011534043.1:c.291-864_291-860dup	XP_011532345.1:n.291-864_291-860dup
XM_011534044.1:c.216-864_216-860dup	XP_011532346.1:n.216-864_216-860dup
XM_011534045.1:c.159-864_159-860dup	XP_011532347.1:n.159-864_159-860dup
XM_011534043.2:c.291-864_291-860dup	XP_011532345.1:n.291-864_291-860dup
XM_011534045.3:c.159-864_159-860dup	XP_011532347.1:n.159-864_159-860dup
XM_017007106.1:c.159-864_159-860dup	XP_016862595.1:n.159-864_159-860dup
NM_003242.6:c.264-864_264-860dup MANE Select	NP_003233.4:n.264-864_264-860dup