Canonical Allele Identifier: CA433009900

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 1776157
• ClinVar RCV Id: RCV002398674
• gnomAD v4: 3-30606898-G-T
• MyVariant Identifiers: chr3:g.30648390G>T (hg19)

Genomic Alleles

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

Transcript Alleles

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