Canonical Allele Identifier: CA906183687

Gene: TGFBR2

Linked Data

• dbSNP Id: rs1316612696
• MyVariant Identifiers: chr3:g.30730949_30730951del (hg19) ; chr3:g.30689457_30689459del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30689461_30689463del , CM000665.2:g.30689461_30689463del	GRCh38
NC_000003.11:g.30730953_30730955del , CM000665.1:g.30730953_30730955del	GRCh37
NC_000003.10:g.30705957_30705959del	NCBI36
NG_007490.1:g.87960_87962del , LRG_779:g.87960_87962del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1524+950_1524+952del MANE Select	ENSP00000295754.5:n.1524+950_1524+952del
ENST00000672050.1:n.408+950_408+952del
ENST00000672866.1:n.3120+950_3120+952del
ENST00000673203.1:n.402+950_402+952del
ENST00000295754.9:c.1524+950_1524+952del	ENSP00000295754.5:n.1524+950_1524+952del
ENST00000359013.4:c.1599+950_1599+952del	ENSP00000351905.4:n.1599+950_1599+952del
NM_001024847.2:c.1599+950_1599+952del , LRG_779t1:c.1599+950_1599+952del	NP_001020018.1:n.1599+950_1599+952del
NM_003242.5:c.1524+950_1524+952del	NP_003233.4:n.1524+950_1524+952del
XM_011534043.1:c.1551+950_1551+952del	XP_011532345.1:n.1551+950_1551+952del
XM_011534044.1:c.1476+950_1476+952del	XP_011532346.1:n.1476+950_1476+952del
XM_011534045.1:c.1419+950_1419+952del	XP_011532347.1:n.1419+950_1419+952del
XM_011534043.2:c.1551+950_1551+952del	XP_011532345.1:n.1551+950_1551+952del
XM_011534045.3:c.1419+950_1419+952del	XP_011532347.1:n.1419+950_1419+952del
XM_017007106.1:c.1419+950_1419+952del	XP_016862595.1:n.1419+950_1419+952del
NM_003242.6:c.1524+950_1524+952del MANE Select	NP_003233.4:n.1524+950_1524+952del