Canonical Allele Identifier: CA351808829

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 932726
• ClinVar RCV Id: RCV001200661
• dbSNP Id: rs1699361288
• MyVariant Identifiers: chr3:g.30713916C>T (hg19) ; chr3:g.30672424C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672424C>T , CM000665.2:g.30672424C>T	GRCh38
NC_000003.11:g.30713916C>T , CM000665.1:g.30713916C>T	GRCh37
NC_000003.10:g.30688920C>T	NCBI36
NG_007490.1:g.70923C>T , LRG_779:g.70923C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1241C>T MANE Select	ENSP00000295754.5:p.Ala414Val
ENST00000672866.1:n.2837C>T
ENST00000295754.9:c.1241C>T	ENSP00000295754.5:p.Ala414Val
ENST00000359013.4:c.1316C>T	ENSP00000351905.4:p.Ala439Val
NM_001024847.2:c.1316C>T , LRG_779t1:c.1316C>T	NP_001020018.1:p.Ala439Val
NM_003242.5:c.1241C>T	NP_003233.4:p.Ala414Val
XM_011534043.1:c.1268C>T	XP_011532345.1:p.Ala423Val
XM_011534044.1:c.1193C>T	XP_011532346.1:p.Ala398Val
XM_011534045.1:c.1136C>T	XP_011532347.1:p.Ala379Val
XM_011534043.2:c.1268C>T	XP_011532345.1:p.Ala423Val
XM_011534045.3:c.1136C>T	XP_011532347.1:p.Ala379Val
XM_017007106.1:c.1136C>T	XP_016862595.1:p.Ala379Val
NM_003242.6:c.1241C>T MANE Select	NP_003233.4:p.Ala414Val