Canonical Allele Identifier: CA433058900

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 2870211
• ClinVar RCV Id: RCV003644472
• dbSNP Id: rs1368928330
• gnomAD v2: 3-30713599-G-C
• gnomAD v4: 3-30672107-G-C
• MyVariant Identifiers: chr3:g.30713599G>C (hg19) ; chr3:g.30672107G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672107G>C , CM000665.2:g.30672107G>C	GRCh38
NC_000003.11:g.30713599G>C , CM000665.1:g.30713599G>C	GRCh37
NC_000003.10:g.30688603G>C	NCBI36
NG_007490.1:g.70606G>C , LRG_779:g.70606G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.924G>C MANE Select	ENSP00000295754.5:p.Leu308=
ENST00000672866.1:n.2520G>C
ENST00000295754.9:c.924G>C	ENSP00000295754.5:p.Leu308=
ENST00000359013.4:c.999G>C	ENSP00000351905.4:p.Leu333=
NM_001024847.2:c.999G>C , LRG_779t1:c.999G>C	NP_001020018.1:p.Leu333=
NM_003242.5:c.924G>C	NP_003233.4:p.Leu308=
XM_011534043.1:c.951G>C	XP_011532345.1:p.Leu317=
XM_011534044.1:c.876G>C	XP_011532346.1:p.Leu292=
XM_011534045.1:c.819G>C	XP_011532347.1:p.Leu273=
XM_011534043.2:c.951G>C	XP_011532345.1:p.Leu317=
XM_011534045.3:c.819G>C	XP_011532347.1:p.Leu273=
XM_017007106.1:c.819G>C	XP_016862595.1:p.Leu273=
NM_003242.6:c.924G>C MANE Select	NP_003233.4:p.Leu308=