Canonical Allele Identifier: CA432917978

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 3074754
• ClinVar RCV Id: RCV004014288
• dbSNP Id: rs1356734619
• gnomAD v2: 3-30732953-C-T
• gnomAD v4: 3-30691461-C-T
• MyVariant Identifiers: chr3:g.30732953C>T (hg19) ; chr3:g.30691461C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30691461C>T , CM000665.2:g.30691461C>T	GRCh38
NC_000003.11:g.30732953C>T , CM000665.1:g.30732953C>T	GRCh37
NC_000003.10:g.30707957C>T	NCBI36
NG_007490.1:g.89960C>T , LRG_779:g.89960C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1566C>T MANE Select	ENSP00000295754.5:p.Asp522=
ENST00000672050.1:n.450C>T
ENST00000672866.1:n.3162C>T
ENST00000673203.1:n.444C>T
ENST00000295754.9:c.1566C>T	ENSP00000295754.5:p.Asp522=
ENST00000359013.4:c.1641C>T	ENSP00000351905.4:p.Asp547=
NM_001024847.2:c.1641C>T , LRG_779t1:c.1641C>T	NP_001020018.1:p.Asp547=
NM_003242.5:c.1566C>T	NP_003233.4:p.Asp522=
XM_011534043.1:c.1593C>T	XP_011532345.1:p.Asp531=
XM_011534044.1:c.1518C>T	XP_011532346.1:p.Asp506=
XM_011534045.1:c.1461C>T	XP_011532347.1:p.Asp487=
XM_011534043.2:c.1593C>T	XP_011532345.1:p.Asp531=
XM_011534045.3:c.1461C>T	XP_011532347.1:p.Asp487=
XM_017007106.1:c.1461C>T	XP_016862595.1:p.Asp487=
NM_003242.6:c.1566C>T MANE Select	NP_003233.4:p.Asp522=