Canonical Allele Identifier: CA906197405

Gene: TGFBR2

Linked Data

• dbSNP Id: rs890018981
• gnomAD v3: 3-30649609-GT-G
• gnomAD v4: 3-30649609-GT-G
• MyVariant Identifiers: chr3:g.30691102del (hg19) ; chr3:g.30649610del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30649617del , CM000665.2:g.30649617del	GRCh38
NC_000003.11:g.30691109del , CM000665.1:g.30691109del	GRCh37
NC_000003.10:g.30666113del	NCBI36
NG_007490.1:g.48116del , LRG_779:g.48116del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.264-653del MANE Select	ENSP00000295754.5:n.264-653del
ENST00000672866.1:n.1860-653del
ENST00000673250.1:n.388-653del
ENST00000295754.9:c.264-653del	ENSP00000295754.5:n.264-653del
ENST00000359013.4:c.339-653del	ENSP00000351905.4:n.339-653del
NM_001024847.2:c.339-653del , LRG_779t1:c.339-653del	NP_001020018.1:n.339-653del
NM_003242.5:c.264-653del	NP_003233.4:n.264-653del
XM_011534043.1:c.291-653del	XP_011532345.1:n.291-653del
XM_011534044.1:c.216-653del	XP_011532346.1:n.216-653del
XM_011534045.1:c.159-653del	XP_011532347.1:n.159-653del
XM_011534043.2:c.291-653del	XP_011532345.1:n.291-653del
XM_011534045.3:c.159-653del	XP_011532347.1:n.159-653del
XM_017007106.1:c.159-653del	XP_016862595.1:n.159-653del
NM_003242.6:c.264-653del MANE Select	NP_003233.4:n.264-653del