Canonical Allele Identifier: CA1354880685

Gene: TGFBR2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30689204_30689215delinsATAAAGAGGCTG , CM000665.2:g.30689204_30689215delinsATAAAGAGGCTG	GRCh38
NC_000003.11:g.30730696_30730707delinsATAAAGAGGCTG , CM000665.1:g.30730696_30730707delinsATAAAGAGGCTG	GRCh37
NC_000003.10:g.30705700_30705711delinsATAAAGAGGCTG	NCBI36
NG_007490.1:g.87703_87714delinsATAAAGAGGCTG , LRG_779:g.87703_87714delinsATAAAGAGGCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1524+693_1524+704delinsATAAAGAGGCTG MANE Select	ENSP00000295754.5:n.1524+693_1524+704delinsATAAAGAGGCTG
ENST00000672050.1:n.408+693_408+704delinsATAAAGAGGCTG
ENST00000672866.1:n.3120+693_3120+704delinsATAAAGAGGCTG
ENST00000673203.1:n.402+693_402+704delinsATAAAGAGGCTG
ENST00000295754.9:c.1524+693_1524+704delinsATAAAGAGGCTG	ENSP00000295754.5:n.1524+693_1524+704delinsATAAAGAGGCTG
ENST00000359013.4:c.1599+693_1599+704delinsATAAAGAGGCTG	ENSP00000351905.4:n.1599+693_1599+704delinsATAAAGAGGCTG
NM_001024847.2:c.1599+693_1599+704delinsATAAAGAGGCTG , LRG_779t1:c.1599+693_1599+704delinsATAAAGAGGCTG	NP_001020018.1:n.1599+693_1599+704delinsATAAAGAGGCTG
NM_003242.5:c.1524+693_1524+704delinsATAAAGAGGCTG	NP_003233.4:n.1524+693_1524+704delinsATAAAGAGGCTG
XM_011534043.1:c.1551+693_1551+704delinsATAAAGAGGCTG	XP_011532345.1:n.1551+693_1551+704delinsATAAAGAGGCTG
XM_011534044.1:c.1476+693_1476+704delinsATAAAGAGGCTG	XP_011532346.1:n.1476+693_1476+704delinsATAAAGAGGCTG
XM_011534045.1:c.1419+693_1419+704delinsATAAAGAGGCTG	XP_011532347.1:n.1419+693_1419+704delinsATAAAGAGGCTG
XM_011534043.2:c.1551+693_1551+704delinsATAAAGAGGCTG	XP_011532345.1:n.1551+693_1551+704delinsATAAAGAGGCTG
XM_011534045.3:c.1419+693_1419+704delinsATAAAGAGGCTG	XP_011532347.1:n.1419+693_1419+704delinsATAAAGAGGCTG
XM_017007106.1:c.1419+693_1419+704delinsATAAAGAGGCTG	XP_016862595.1:n.1419+693_1419+704delinsATAAAGAGGCTG
NM_003242.6:c.1524+693_1524+704delinsATAAAGAGGCTG MANE Select	NP_003233.4:n.1524+693_1524+704delinsATAAAGAGGCTG