Canonical Allele Identifier: CA351807609

Gene: TGFBR2

Linked Data

• gnomAD v4: 3-30671851-A-G
• MyVariant Identifiers: chr3:g.30713343A>G (hg19) ; chr3:g.30671851A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30671851A>G , CM000665.2:g.30671851A>G	GRCh38
NC_000003.11:g.30713343A>G , CM000665.1:g.30713343A>G	GRCh37
NC_000003.10:g.30688347A>G	NCBI36
NG_007490.1:g.70350A>G , LRG_779:g.70350A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.668A>G MANE Select	ENSP00000295754.5:p.Asp223Gly
ENST00000672866.1:n.2264A>G
ENST00000295754.9:c.668A>G	ENSP00000295754.5:p.Asp223Gly
ENST00000359013.4:c.743A>G	ENSP00000351905.4:p.Asp248Gly
NM_001024847.2:c.743A>G , LRG_779t1:c.743A>G	NP_001020018.1:p.Asp248Gly
NM_003242.5:c.668A>G	NP_003233.4:p.Asp223Gly
XM_011534043.1:c.695A>G	XP_011532345.1:p.Asp232Gly
XM_011534044.1:c.620A>G	XP_011532346.1:p.Asp207Gly
XM_011534045.1:c.563A>G	XP_011532347.1:p.Asp188Gly
XM_011534043.2:c.695A>G	XP_011532345.1:p.Asp232Gly
XM_011534045.3:c.563A>G	XP_011532347.1:p.Asp188Gly
XM_017007106.1:c.563A>G	XP_016862595.1:p.Asp188Gly
NM_003242.6:c.668A>G MANE Select	NP_003233.4:p.Asp223Gly