Canonical Allele Identifier: CA433058952

Gene: TGFBR2

Linked Data

• dbSNP Id: rs1699352410
• gnomAD v4: 3-30672140-A-G
• MyVariant Identifiers: chr3:g.30713632A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672140A>G , CM000665.2:g.30672140A>G	GRCh38
NC_000003.11:g.30713632A>G , CM000665.1:g.30713632A>G	GRCh37
NC_000003.10:g.30688636A>G	NCBI36
NG_007490.1:g.70639A>G , LRG_779:g.70639A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.957A>G MANE Select	ENSP00000295754.5:p.Lys319=
ENST00000672866.1:n.2553A>G
ENST00000295754.9:c.957A>G	ENSP00000295754.5:p.Lys319=
ENST00000359013.4:c.1032A>G	ENSP00000351905.4:p.Lys344=
NM_001024847.2:c.1032A>G , LRG_779t1:c.1032A>G	NP_001020018.1:p.Lys344=
NM_003242.5:c.957A>G	NP_003233.4:p.Lys319=
XM_011534043.1:c.984A>G	XP_011532345.1:p.Lys328=
XM_011534044.1:c.909A>G	XP_011532346.1:p.Lys303=
XM_011534045.1:c.852A>G	XP_011532347.1:p.Lys284=
XM_011534043.2:c.984A>G	XP_011532345.1:p.Lys328=
XM_011534045.3:c.852A>G	XP_011532347.1:p.Lys284=
XM_017007106.1:c.852A>G	XP_016862595.1:p.Lys284=
NM_003242.6:c.957A>G MANE Select	NP_003233.4:p.Lys319=