Canonical Allele Identifier: CA1354880696

Gene: TGFBR2

Linked Data

• dbSNP Id: rs1699673311
• gnomAD v3: 3-30689222-ATTGT-A
• gnomAD v4: 3-30689222-ATTGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30689230_30689233del , CM000665.2:g.30689230_30689233del	GRCh38
NC_000003.11:g.30730722_30730725del , CM000665.1:g.30730722_30730725del	GRCh37
NC_000003.10:g.30705726_30705729del	NCBI36
NG_007490.1:g.87729_87732del , LRG_779:g.87729_87732del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1524+719_1524+722del MANE Select	ENSP00000295754.5:n.1524+719_1524+722del
ENST00000672050.1:n.408+719_408+722del
ENST00000672866.1:n.3120+719_3120+722del
ENST00000673203.1:n.402+719_402+722del
ENST00000295754.9:c.1524+719_1524+722del	ENSP00000295754.5:n.1524+719_1524+722del
ENST00000359013.4:c.1599+719_1599+722del	ENSP00000351905.4:n.1599+719_1599+722del
NM_001024847.2:c.1599+719_1599+722del , LRG_779t1:c.1599+719_1599+722del	NP_001020018.1:n.1599+719_1599+722del
NM_003242.5:c.1524+719_1524+722del	NP_003233.4:n.1524+719_1524+722del
XM_011534043.1:c.1551+719_1551+722del	XP_011532345.1:n.1551+719_1551+722del
XM_011534044.1:c.1476+719_1476+722del	XP_011532346.1:n.1476+719_1476+722del
XM_011534045.1:c.1419+719_1419+722del	XP_011532347.1:n.1419+719_1419+722del
XM_011534043.2:c.1551+719_1551+722del	XP_011532345.1:n.1551+719_1551+722del
XM_011534045.3:c.1419+719_1419+722del	XP_011532347.1:n.1419+719_1419+722del
XM_017007106.1:c.1419+719_1419+722del	XP_016862595.1:n.1419+719_1419+722del
NM_003242.6:c.1524+719_1524+722del MANE Select	NP_003233.4:n.1524+719_1524+722del