Canonical Allele Identifier: CA433009898

Gene: TGFBR2

Linked Data

• dbSNP Id: rs1697932603
• gnomAD v4: 3-30606898-G-A
• COSMIC: COSM6475919 ; COSM6475920
• MyVariant Identifiers: chr3:g.30648390G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30606898G>A , CM000665.2:g.30606898G>A	GRCh38
NC_000003.11:g.30648390G>A , CM000665.1:g.30648390G>A	GRCh37
NC_000003.10:g.30623394G>A	NCBI36
NG_007490.1:g.5397G>A , LRG_779:g.5397G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.15G>A MANE Select	ENSP00000295754.5:p.Leu5=
ENST00000295754.9:c.15G>A	ENSP00000295754.5:p.Leu5=
ENST00000359013.4:c.15G>A	ENSP00000351905.4:p.Leu5=
NM_001024847.2:c.15G>A , LRG_779t1:c.15G>A	NP_001020018.1:p.Leu5=
NM_003242.5:c.15G>A	NP_003233.4:p.Leu5=
XM_011534045.1:c.-12+305G>A	XP_011532347.1:n.-12+305G>A
XM_011534045.3:c.-12+305G>A	XP_011532347.1:n.-12+305G>A
NM_003242.6:c.15G>A MANE Select	NP_003233.4:p.Leu5=