Canonical Allele Identifier: CA351807980

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 3014867
• ClinVar RCV Id: RCV003878490
• dbSNP Id: rs2125434599
• MyVariant Identifiers: chr3:g.30713513C>G (hg19) ; chr3:g.30672021C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672021C>G , CM000665.2:g.30672021C>G	GRCh38
NC_000003.11:g.30713513C>G , CM000665.1:g.30713513C>G	GRCh37
NC_000003.10:g.30688517C>G	NCBI36
NG_007490.1:g.70520C>G , LRG_779:g.70520C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.838C>G MANE Select	ENSP00000295754.5:p.Pro280Ala
ENST00000672866.1:n.2434C>G
ENST00000295754.9:c.838C>G	ENSP00000295754.5:p.Pro280Ala
ENST00000359013.4:c.913C>G	ENSP00000351905.4:p.Pro305Ala
NM_001024847.2:c.913C>G , LRG_779t1:c.913C>G	NP_001020018.1:p.Pro305Ala
NM_003242.5:c.838C>G	NP_003233.4:p.Pro280Ala
XM_011534043.1:c.865C>G	XP_011532345.1:p.Pro289Ala
XM_011534044.1:c.790C>G	XP_011532346.1:p.Pro264Ala
XM_011534045.1:c.733C>G	XP_011532347.1:p.Pro245Ala
XM_011534043.2:c.865C>G	XP_011532345.1:p.Pro289Ala
XM_011534045.3:c.733C>G	XP_011532347.1:p.Pro245Ala
XM_017007106.1:c.733C>G	XP_016862595.1:p.Pro245Ala
NM_003242.6:c.838C>G MANE Select	NP_003233.4:p.Pro280Ala