Canonical Allele Identifier: CA1046447392

Gene: TGFBR2

Linked Data

• dbSNP Id: rs1699355126
• gnomAD v3: 3-30672219-G-GCT
• gnomAD v4: 3-30672219-G-GCT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672219_30672220insCT , CM000665.2:g.30672219_30672220insCT	GRCh38
NC_000003.11:g.30713711_30713712insCT , CM000665.1:g.30713711_30713712insCT	GRCh37
NC_000003.10:g.30688715_30688716insCT	NCBI36
NG_007490.1:g.70718_70719insCT , LRG_779:g.70718_70719insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1036_1037insCT MANE Select	ENSP00000295754.5:p.Asp346AlafsTer?
ENST00000672866.1:n.2632_2633insCT
ENST00000295754.9:c.1036_1037insCT	ENSP00000295754.5:p.Asp346AlafsTer?
ENST00000359013.4:c.1111_1112insCT	ENSP00000351905.4:p.Asp371AlafsTer?
NM_001024847.2:c.1111_1112insCT , LRG_779t1:c.1111_1112insCT	NP_001020018.1:p.Asp371AlafsTer?
NM_003242.5:c.1036_1037insCT	NP_003233.4:p.Asp346AlafsTer?
XM_011534043.1:c.1063_1064insCT	XP_011532345.1:p.Asp355AlafsTer?
XM_011534044.1:c.988_989insCT	XP_011532346.1:p.Asp330AlafsTer?
XM_011534045.1:c.931_932insCT	XP_011532347.1:p.Asp311AlafsTer?
XM_011534043.2:c.1063_1064insCT	XP_011532345.1:p.Asp355AlafsTer?
XM_011534045.3:c.931_932insCT	XP_011532347.1:p.Asp311AlafsTer?
XM_017007106.1:c.931_932insCT	XP_016862595.1:p.Asp311AlafsTer?
NM_003242.6:c.1036_1037insCT MANE Select	NP_003233.4:p.Asp346AlafsTer?