Canonical Allele Identifier: CA351808574

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 2100101
• ClinVar RCV Id: RCV003014237
• dbSNP Id: rs2125436308
• COSMIC: COSM6475853 ; COSM6475854
• MyVariant Identifiers: chr3:g.30713792A>G (hg19) ; chr3:g.30672300A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672300A>G , CM000665.2:g.30672300A>G	GRCh38
NC_000003.11:g.30713792A>G , CM000665.1:g.30713792A>G	GRCh37
NC_000003.10:g.30688796A>G	NCBI36
NG_007490.1:g.70799A>G , LRG_779:g.70799A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1117A>G MANE Select	ENSP00000295754.5:p.Met373Val
ENST00000672866.1:n.2713A>G
ENST00000295754.9:c.1117A>G	ENSP00000295754.5:p.Met373Val
ENST00000359013.4:c.1192A>G	ENSP00000351905.4:p.Met398Val
NM_001024847.2:c.1192A>G , LRG_779t1:c.1192A>G	NP_001020018.1:p.Met398Val
NM_003242.5:c.1117A>G	NP_003233.4:p.Met373Val
XM_011534043.1:c.1144A>G	XP_011532345.1:p.Met382Val
XM_011534044.1:c.1069A>G	XP_011532346.1:p.Met357Val
XM_011534045.1:c.1012A>G	XP_011532347.1:p.Met338Val
XM_011534043.2:c.1144A>G	XP_011532345.1:p.Met382Val
XM_011534045.3:c.1012A>G	XP_011532347.1:p.Met338Val
XM_017007106.1:c.1012A>G	XP_016862595.1:p.Met338Val
NM_003242.6:c.1117A>G MANE Select	NP_003233.4:p.Met373Val