Canonical Allele Identifier: CA045619

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 636535
• ClinVar RCV Id: RCV000788389
• dbSNP Id: rs189119533
• ExAC: 3:30713753 C / G
• gnomAD v2: 3-30713753-C-G
• gnomAD v3: 3-30672261-C-G
• gnomAD v4: 3-30672261-C-G
• MyVariant Identifiers: chr3:g.30713753C>G (hg19) ; chr3:g.30672261C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672261C>G , CM000665.2:g.30672261C>G	GRCh38
NC_000003.11:g.30713753C>G , CM000665.1:g.30713753C>G	GRCh37
NC_000003.10:g.30688757C>G	NCBI36
NG_007490.1:g.70760C>G , LRG_779:g.70760C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1078C>G MANE Select	ENSP00000295754.5:p.His360Asp
ENST00000672866.1:n.2674C>G
ENST00000295754.9:c.1078C>G	ENSP00000295754.5:p.His360Asp
ENST00000359013.4:c.1153C>G	ENSP00000351905.4:p.His385Asp
NM_001024847.2:c.1153C>G , LRG_779t1:c.1153C>G	NP_001020018.1:p.His385Asp
NM_003242.5:c.1078C>G	NP_003233.4:p.His360Asp
XM_011534043.1:c.1105C>G	XP_011532345.1:p.His369Asp
XM_011534044.1:c.1030C>G	XP_011532346.1:p.His344Asp
XM_011534045.1:c.973C>G	XP_011532347.1:p.His325Asp
XM_011534043.2:c.1105C>G	XP_011532345.1:p.His369Asp
XM_011534045.3:c.973C>G	XP_011532347.1:p.His325Asp
XM_017007106.1:c.973C>G	XP_016862595.1:p.His325Asp
NM_003242.6:c.1078C>G MANE Select	NP_003233.4:p.His360Asp