Canonical Allele Identifier: CA351808281

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 3073791
• ClinVar RCV Id: RCV004016797
• dbSNP Id: rs2125435420
• gnomAD v4: 3-30672155-C-G
• MyVariant Identifiers: chr3:g.30713647C>G (hg19) ; chr3:g.30672155C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672155C>G , CM000665.2:g.30672155C>G	GRCh38
NC_000003.11:g.30713647C>G , CM000665.1:g.30713647C>G	GRCh37
NC_000003.10:g.30688651C>G	NCBI36
NG_007490.1:g.70654C>G , LRG_779:g.70654C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.972C>G MANE Select	ENSP00000295754.5:p.Ile324Met
ENST00000672866.1:n.2568C>G
ENST00000295754.9:c.972C>G	ENSP00000295754.5:p.Ile324Met
ENST00000359013.4:c.1047C>G	ENSP00000351905.4:p.Ile349Met
NM_001024847.2:c.1047C>G , LRG_779t1:c.1047C>G	NP_001020018.1:p.Ile349Met
NM_003242.5:c.972C>G	NP_003233.4:p.Ile324Met
XM_011534043.1:c.999C>G	XP_011532345.1:p.Ile333Met
XM_011534044.1:c.924C>G	XP_011532346.1:p.Ile308Met
XM_011534045.1:c.867C>G	XP_011532347.1:p.Ile289Met
XM_011534043.2:c.999C>G	XP_011532345.1:p.Ile333Met
XM_011534045.3:c.867C>G	XP_011532347.1:p.Ile289Met
XM_017007106.1:c.867C>G	XP_016862595.1:p.Ile289Met
NM_003242.6:c.972C>G MANE Select	NP_003233.4:p.Ile324Met