Canonical Allele Identifier: CA72290185

Gene: TGFBR2

Linked Data

• dbSNP Id: rs984166559
• gnomAD v3: 3-30608610-GTGTT-G
• gnomAD v4: 3-30608610-GTGTT-G
• MyVariant Identifiers: chr3:g.30650103_30650106del (hg19) ; chr3:g.30608611_30608614del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30608613_30608616del , CM000665.2:g.30608613_30608616del	GRCh38
NC_000003.11:g.30650105_30650108del , CM000665.1:g.30650105_30650108del	GRCh37
NC_000003.10:g.30625109_30625112del	NCBI36
NG_007490.1:g.7112_7115del , LRG_779:g.7112_7115del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.94+1636_94+1639del MANE Select	ENSP00000295754.5:n.94+1636_94+1639del
ENST00000295754.9:c.94+1636_94+1639del	ENSP00000295754.5:n.94+1636_94+1639del
ENST00000359013.4:c.94+1636_94+1639del	ENSP00000351905.4:n.94+1636_94+1639del
NM_001024847.2:c.94+1636_94+1639del , LRG_779t1:c.94+1636_94+1639del	NP_001020018.1:n.94+1636_94+1639del
NM_003242.5:c.94+1636_94+1639del	NP_003233.4:n.94+1636_94+1639del
XM_011534045.1:c.-12+2020_-12+2023del	XP_011532347.1:n.-12+2020_-12+2023del
XM_011534045.3:c.-12+2020_-12+2023del	XP_011532347.1:n.-12+2020_-12+2023del
NM_003242.6:c.94+1636_94+1639del MANE Select	NP_003233.4:n.94+1636_94+1639del