Canonical Allele Identifier: CA71527972

Gene: TGFBR2

Linked Data

• dbSNP Id: rs202056618
• gnomAD v4: 3-30671862-A-G
• MyVariant Identifiers: chr3:g.30713354A>G (hg19) ; chr3:g.30671862A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30671862A>G , CM000665.2:g.30671862A>G	GRCh38
NC_000003.11:g.30713354A>G , CM000665.1:g.30713354A>G	GRCh37
NC_000003.10:g.30688358A>G	NCBI36
NG_007490.1:g.70361A>G , LRG_779:g.70361A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.679A>G MANE Select	ENSP00000295754.5:p.Ile227Val
ENST00000672866.1:n.2275A>G
ENST00000295754.9:c.679A>G	ENSP00000295754.5:p.Ile227Val
ENST00000359013.4:c.754A>G	ENSP00000351905.4:p.Ile252Val
NM_001024847.2:c.754A>G , LRG_779t1:c.754A>G	NP_001020018.1:p.Ile252Val
NM_003242.5:c.679A>G	NP_003233.4:p.Ile227Val
XM_011534043.1:c.706A>G	XP_011532345.1:p.Ile236Val
XM_011534044.1:c.631A>G	XP_011532346.1:p.Ile211Val
XM_011534045.1:c.574A>G	XP_011532347.1:p.Ile192Val
XM_011534043.2:c.706A>G	XP_011532345.1:p.Ile236Val
XM_011534045.3:c.574A>G	XP_011532347.1:p.Ile192Val
XM_017007106.1:c.574A>G	XP_016862595.1:p.Ile192Val
NM_003242.6:c.679A>G MANE Select	NP_003233.4:p.Ile227Val