Canonical Allele Identifier: CA049908

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 1363915
• ClinVar RCV Id: RCV001937236 ; RCV002482527
• dbSNP Id: rs753184709
• ExAC: 3:30713472 A / G
• gnomAD v2: 3-30713472-A-G
• MyVariant Identifiers: chr3:g.30713472A>G (hg19) ; chr3:g.30671980A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30671980A>G , CM000665.2:g.30671980A>G	GRCh38
NC_000003.11:g.30713472A>G , CM000665.1:g.30713472A>G	GRCh37
NC_000003.10:g.30688476A>G	NCBI36
NG_007490.1:g.70479A>G , LRG_779:g.70479A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.797A>G MANE Select	ENSP00000295754.5:p.Asn266Ser
ENST00000672866.1:n.2393A>G
ENST00000295754.9:c.797A>G	ENSP00000295754.5:p.Asn266Ser
ENST00000359013.4:c.872A>G	ENSP00000351905.4:p.Asn291Ser
NM_001024847.2:c.872A>G , LRG_779t1:c.872A>G	NP_001020018.1:p.Asn291Ser
NM_003242.5:c.797A>G	NP_003233.4:p.Asn266Ser
XM_011534043.1:c.824A>G	XP_011532345.1:p.Asn275Ser
XM_011534044.1:c.749A>G	XP_011532346.1:p.Asn250Ser
XM_011534045.1:c.692A>G	XP_011532347.1:p.Asn231Ser
XM_011534043.2:c.824A>G	XP_011532345.1:p.Asn275Ser
XM_011534045.3:c.692A>G	XP_011532347.1:p.Asn231Ser
XM_017007106.1:c.692A>G	XP_016862595.1:p.Asn231Ser
NM_003242.6:c.797A>G MANE Select	NP_003233.4:p.Asn266Ser