Canonical Allele Identifier: CA10615561

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 344663
• ClinVar RCV Id: RCV000266342 ; RCV000329480 ; RCV000381883
• dbSNP Id: rs747069454
• gnomAD v2: 3-30732902-C-G
• gnomAD v3: 3-30691410-C-G
• gnomAD v4: 3-30691410-C-G
• MyVariant Identifiers: chr3:g.30732902C>G (hg19) ; chr3:g.30691410C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30691410C>G , CM000665.2:g.30691410C>G	GRCh38
NC_000003.11:g.30732902C>G , CM000665.1:g.30732902C>G	GRCh37
NC_000003.10:g.30707906C>G	NCBI36
NG_007490.1:g.89909C>G , LRG_779:g.89909C>G

Transcript Alleles

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