Canonical Allele Identifier: CA16617867

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 421690
• ClinVar RCV Id: RCV000482047
• dbSNP Id: rs1064795299
• MyVariant Identifiers: chr3:g.30732901del (hg19) ; chr3:g.30691409del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30691409del , CM000665.2:g.30691409del	GRCh38
NC_000003.11:g.30732901del , CM000665.1:g.30732901del	GRCh37
NC_000003.10:g.30707905del	NCBI36
NG_007490.1:g.89908del , LRG_779:g.89908del

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.1525-11del MANE Select	ENSP00000295754.5:n.1525-11del
ENST00000672050.1:n.409-11del
ENST00000672866.1:n.3121-11del
ENST00000673203.1:n.403-11del
ENST00000295754.9:c.1525-11del	ENSP00000295754.5:n.1525-11del
ENST00000359013.4:c.1600-11del	ENSP00000351905.4:n.1600-11del
NM_001024847.2:c.1600-11del , LRG_779t1:c.1600-11del	NP_001020018.1:n.1600-11del
NM_003242.5:c.1525-11del	NP_003233.4:n.1525-11del
XM_011534043.1:c.1552-11del	XP_011532345.1:n.1552-11del
XM_011534044.1:c.1477-11del	XP_011532346.1:n.1477-11del
XM_011534045.1:c.1420-11del	XP_011532347.1:n.1420-11del
XM_011534043.2:c.1552-11del	XP_011532345.1:n.1552-11del
XM_011534045.3:c.1420-11del	XP_011532347.1:n.1420-11del
XM_017007106.1:c.1420-11del	XP_016862595.1:n.1420-11del
NM_003242.6:c.1525-11del MANE Select	NP_003233.4:n.1525-11del