Canonical Allele Identifier: CA433059057

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 1926613
• ClinVar RCV Id: RCV002605271
• dbSNP Id: rs2125435864
• MyVariant Identifiers: chr3:g.30713734C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672242C>A , CM000665.2:g.30672242C>A	GRCh38
NC_000003.11:g.30713734C>A , CM000665.1:g.30713734C>A	GRCh37
NC_000003.10:g.30688738C>A	NCBI36
NG_007490.1:g.70741C>A , LRG_779:g.70741C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1059C>A MANE Select	ENSP00000295754.5:p.Ser353=
ENST00000672866.1:n.2655C>A
ENST00000295754.9:c.1059C>A	ENSP00000295754.5:p.Ser353=
ENST00000359013.4:c.1134C>A	ENSP00000351905.4:p.Ser378=
NM_001024847.2:c.1134C>A , LRG_779t1:c.1134C>A	NP_001020018.1:p.Ser378=
NM_003242.5:c.1059C>A	NP_003233.4:p.Ser353=
XM_011534043.1:c.1086C>A	XP_011532345.1:p.Ser362=
XM_011534044.1:c.1011C>A	XP_011532346.1:p.Ser337=
XM_011534045.1:c.954C>A	XP_011532347.1:p.Ser318=
XM_011534043.2:c.1086C>A	XP_011532345.1:p.Ser362=
XM_011534045.3:c.954C>A	XP_011532347.1:p.Ser318=
XM_017007106.1:c.954C>A	XP_016862595.1:p.Ser318=
NM_003242.6:c.1059C>A MANE Select	NP_003233.4:p.Ser353=