Canonical Allele Identifier: CA351807778

Gene: TGFBR2

Linked Data

• dbSNP Id: rs1278268899
• gnomAD v4: 3-30671928-C-G
• MyVariant Identifiers: chr3:g.30713420C>G (hg19) ; chr3:g.30671928C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30671928C>G , CM000665.2:g.30671928C>G	GRCh38
NC_000003.11:g.30713420C>G , CM000665.1:g.30713420C>G	GRCh37
NC_000003.10:g.30688424C>G	NCBI36
NG_007490.1:g.70427C>G , LRG_779:g.70427C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.745C>G MANE Select	ENSP00000295754.5:p.Leu249Val
ENST00000672866.1:n.2341C>G
ENST00000295754.9:c.745C>G	ENSP00000295754.5:p.Leu249Val
ENST00000359013.4:c.820C>G	ENSP00000351905.4:p.Leu274Val
NM_001024847.2:c.820C>G , LRG_779t1:c.820C>G	NP_001020018.1:p.Leu274Val
NM_003242.5:c.745C>G	NP_003233.4:p.Leu249Val
XM_011534043.1:c.772C>G	XP_011532345.1:p.Leu258Val
XM_011534044.1:c.697C>G	XP_011532346.1:p.Leu233Val
XM_011534045.1:c.640C>G	XP_011532347.1:p.Leu214Val
XM_011534043.2:c.772C>G	XP_011532345.1:p.Leu258Val
XM_011534045.3:c.640C>G	XP_011532347.1:p.Leu214Val
XM_017007106.1:c.640C>G	XP_016862595.1:p.Leu214Val
NM_003242.6:c.745C>G MANE Select	NP_003233.4:p.Leu249Val