Canonical Allele Identifier: CA432917570

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 1150530
• ClinVar RCV Id: RCV001491167
• dbSNP Id: rs2125436052
• MyVariant Identifiers: chr3:g.30713758C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672266C>G , CM000665.2:g.30672266C>G	GRCh38
NC_000003.11:g.30713758C>G , CM000665.1:g.30713758C>G	GRCh37
NC_000003.10:g.30688762C>G	NCBI36
NG_007490.1:g.70765C>G , LRG_779:g.70765C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1083C>G MANE Select	ENSP00000295754.5:p.Leu361=
ENST00000672866.1:n.2679C>G
ENST00000295754.9:c.1083C>G	ENSP00000295754.5:p.Leu361=
ENST00000359013.4:c.1158C>G	ENSP00000351905.4:p.Leu386=
NM_001024847.2:c.1158C>G , LRG_779t1:c.1158C>G	NP_001020018.1:p.Leu386=
NM_003242.5:c.1083C>G	NP_003233.4:p.Leu361=
XM_011534043.1:c.1110C>G	XP_011532345.1:p.Leu370=
XM_011534044.1:c.1035C>G	XP_011532346.1:p.Leu345=
XM_011534045.1:c.978C>G	XP_011532347.1:p.Leu326=
XM_011534043.2:c.1110C>G	XP_011532345.1:p.Leu370=
XM_011534045.3:c.978C>G	XP_011532347.1:p.Leu326=
XM_017007106.1:c.978C>G	XP_016862595.1:p.Leu326=
NM_003242.6:c.1083C>G MANE Select	NP_003233.4:p.Leu361=