Canonical Allele Identifier: CA433058517

Gene: TGFBR2

Linked Data

• gnomAD v4: 3-30671879-C-A
• MyVariant Identifiers: chr3:g.30713371C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30671879C>A , CM000665.2:g.30671879C>A	GRCh38
NC_000003.11:g.30713371C>A , CM000665.1:g.30713371C>A	GRCh37
NC_000003.10:g.30688375C>A	NCBI36
NG_007490.1:g.70378C>A , LRG_779:g.70378C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.696C>A MANE Select	ENSP00000295754.5:p.Ala232=
ENST00000672866.1:n.2292C>A
ENST00000295754.9:c.696C>A	ENSP00000295754.5:p.Ala232=
ENST00000359013.4:c.771C>A	ENSP00000351905.4:p.Ala257=
NM_001024847.2:c.771C>A , LRG_779t1:c.771C>A	NP_001020018.1:p.Ala257=
NM_003242.5:c.696C>A	NP_003233.4:p.Ala232=
XM_011534043.1:c.723C>A	XP_011532345.1:p.Ala241=
XM_011534044.1:c.648C>A	XP_011532346.1:p.Ala216=
XM_011534045.1:c.591C>A	XP_011532347.1:p.Ala197=
XM_011534043.2:c.723C>A	XP_011532345.1:p.Ala241=
XM_011534045.3:c.591C>A	XP_011532347.1:p.Ala197=
XM_017007106.1:c.591C>A	XP_016862595.1:p.Ala197=
NM_003242.6:c.696C>A MANE Select	NP_003233.4:p.Ala232=