Canonical Allele Identifier: CA351830766

Gene: TGFBR2

Linked Data

• dbSNP Id: rs1237118370
• gnomAD v2: 3-30664734-C-A
• gnomAD v4: 3-30623242-C-A
• MyVariant Identifiers: chr3:g.30664734C>A (hg19) ; chr3:g.30623242C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30623242C>A , CM000665.2:g.30623242C>A	GRCh38
NC_000003.11:g.30664734C>A , CM000665.1:g.30664734C>A	GRCh37
NC_000003.10:g.30639738C>A	NCBI36
NG_007490.1:g.21741C>A , LRG_779:g.21741C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.94+16265C>A MANE Select	ENSP00000295754.5:n.94+16265C>A
ENST00000673250.1:n.187C>A
ENST00000295754.9:c.94+16265C>A	ENSP00000295754.5:n.94+16265C>A
ENST00000359013.4:c.138C>A	ENSP00000351905.4:p.Ser46Arg
NM_001024847.2:c.138C>A , LRG_779t1:c.138C>A	NP_001020018.1:p.Ser46Arg
NM_003242.5:c.94+16265C>A	NP_003233.4:n.94+16265C>A
XM_011534043.1:c.90C>A	XP_011532345.1:p.Ser30Arg
XM_011534044.1:c.46+8536C>A	XP_011532346.1:n.46+8536C>A
XM_011534045.1:c.-12+16649C>A	XP_011532347.1:n.-12+16649C>A
XM_011534043.2:c.90C>A	XP_011532345.1:p.Ser30Arg
XM_011534045.3:c.-12+16649C>A	XP_011532347.1:n.-12+16649C>A
NM_003242.6:c.94+16265C>A MANE Select	NP_003233.4:n.94+16265C>A