Canonical Allele Identifier: CA323123

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 213911
• ClinVar RCV Id: RCV000198596
• dbSNP Id: rs113474008
• MyVariant Identifiers: chr3:g.30664729C>G (hg19) ; chr3:g.30623237C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30623237C>G , CM000665.2:g.30623237C>G	GRCh38
NC_000003.11:g.30664729C>G , CM000665.1:g.30664729C>G	GRCh37
NC_000003.10:g.30639733C>G	NCBI36
NG_007490.1:g.21736C>G , LRG_779:g.21736C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.94+16260C>G MANE Select	ENSP00000295754.5:n.94+16260C>G
ENST00000673250.1:n.182C>G
ENST00000295754.9:c.94+16260C>G	ENSP00000295754.5:n.94+16260C>G
ENST00000359013.4:c.133C>G	ENSP00000351905.4:p.Pro45Ala
NM_001024847.2:c.133C>G , LRG_779t1:c.133C>G	NP_001020018.1:p.Pro45Ala
NM_003242.5:c.94+16260C>G	NP_003233.4:n.94+16260C>G
XM_011534043.1:c.85C>G	XP_011532345.1:p.Pro29Ala
XM_011534044.1:c.46+8531C>G	XP_011532346.1:n.46+8531C>G
XM_011534045.1:c.-12+16644C>G	XP_011532347.1:n.-12+16644C>G
XM_011534043.2:c.85C>G	XP_011532345.1:p.Pro29Ala
XM_011534045.3:c.-12+16644C>G	XP_011532347.1:n.-12+16644C>G
NM_003242.6:c.94+16260C>G MANE Select	NP_003233.4:n.94+16260C>G