Canonical Allele Identifier: CA906183580

Gene: TGFBR2

Linked Data

• dbSNP Id: rs1471146405
• MyVariant Identifiers: chr3:g.30730775_30730776del (hg19) ; chr3:g.30689283_30689284del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30689285_30689286del , CM000665.2:g.30689285_30689286del	GRCh38
NC_000003.11:g.30730777_30730778del , CM000665.1:g.30730777_30730778del	GRCh37
NC_000003.10:g.30705781_30705782del	NCBI36
NG_007490.1:g.87784_87785del , LRG_779:g.87784_87785del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1524+774_1524+775del MANE Select	ENSP00000295754.5:n.1524+774_1524+775del
ENST00000672050.1:n.408+774_408+775del
ENST00000672866.1:n.3120+774_3120+775del
ENST00000673203.1:n.402+774_402+775del
ENST00000295754.9:c.1524+774_1524+775del	ENSP00000295754.5:n.1524+774_1524+775del
ENST00000359013.4:c.1599+774_1599+775del	ENSP00000351905.4:n.1599+774_1599+775del
NM_001024847.2:c.1599+774_1599+775del , LRG_779t1:c.1599+774_1599+775del	NP_001020018.1:n.1599+774_1599+775del
NM_003242.5:c.1524+774_1524+775del	NP_003233.4:n.1524+774_1524+775del
XM_011534043.1:c.1551+774_1551+775del	XP_011532345.1:n.1551+774_1551+775del
XM_011534044.1:c.1476+774_1476+775del	XP_011532346.1:n.1476+774_1476+775del
XM_011534045.1:c.1419+774_1419+775del	XP_011532347.1:n.1419+774_1419+775del
XM_011534043.2:c.1551+774_1551+775del	XP_011532345.1:n.1551+774_1551+775del
XM_011534045.3:c.1419+774_1419+775del	XP_011532347.1:n.1419+774_1419+775del
XM_017007106.1:c.1419+774_1419+775del	XP_016862595.1:n.1419+774_1419+775del
NM_003242.6:c.1524+774_1524+775del MANE Select	NP_003233.4:n.1524+774_1524+775del