Canonical Allele Identifier: CA541978340

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 1909632
• ClinVar RCV Id: RCV002600365
• dbSNP Id: rs1203255725
• gnomAD v2: 3-30732903-C-T
• gnomAD v3: 3-30691411-C-T
• gnomAD v4: 3-30691411-C-T
• MyVariant Identifiers: chr3:g.30732903C>T (hg19) ; chr3:g.30691411C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30691411C>T , CM000665.2:g.30691411C>T	GRCh38
NC_000003.11:g.30732903C>T , CM000665.1:g.30732903C>T	GRCh37
NC_000003.10:g.30707907C>T	NCBI36
NG_007490.1:g.89910C>T , LRG_779:g.89910C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.1525-9C>T MANE Select	ENSP00000295754.5:n.1525-9C>T
ENST00000672050.1:n.409-9C>T
ENST00000672866.1:n.3121-9C>T
ENST00000673203.1:n.403-9C>T
ENST00000295754.9:c.1525-9C>T	ENSP00000295754.5:n.1525-9C>T
ENST00000359013.4:c.1600-9C>T	ENSP00000351905.4:n.1600-9C>T
NM_001024847.2:c.1600-9C>T , LRG_779t1:c.1600-9C>T	NP_001020018.1:n.1600-9C>T
NM_003242.5:c.1525-9C>T	NP_003233.4:n.1525-9C>T
XM_011534043.1:c.1552-9C>T	XP_011532345.1:n.1552-9C>T
XM_011534044.1:c.1477-9C>T	XP_011532346.1:n.1477-9C>T
XM_011534045.1:c.1420-9C>T	XP_011532347.1:n.1420-9C>T
XM_011534043.2:c.1552-9C>T	XP_011532345.1:n.1552-9C>T
XM_011534045.3:c.1420-9C>T	XP_011532347.1:n.1420-9C>T
XM_017007106.1:c.1420-9C>T	XP_016862595.1:n.1420-9C>T
NM_003242.6:c.1525-9C>T MANE Select	NP_003233.4:n.1525-9C>T