Canonical Allele Identifier: CA433058919

Gene: TGFBR2

Linked Data

• dbSNP Id: rs1012171192
• gnomAD v4: 3-30672128-G-C
• MyVariant Identifiers: chr3:g.30713620G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672128G>C , CM000665.2:g.30672128G>C	GRCh38
NC_000003.11:g.30713620G>C , CM000665.1:g.30713620G>C	GRCh37
NC_000003.10:g.30688624G>C	NCBI36
NG_007490.1:g.70627G>C , LRG_779:g.70627G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.945G>C MANE Select	ENSP00000295754.5:p.Thr315=
ENST00000672866.1:n.2541G>C
ENST00000295754.9:c.945G>C	ENSP00000295754.5:p.Thr315=
ENST00000359013.4:c.1020G>C	ENSP00000351905.4:p.Thr340=
NM_001024847.2:c.1020G>C , LRG_779t1:c.1020G>C	NP_001020018.1:p.Thr340=
NM_003242.5:c.945G>C	NP_003233.4:p.Thr315=
XM_011534043.1:c.972G>C	XP_011532345.1:p.Thr324=
XM_011534044.1:c.897G>C	XP_011532346.1:p.Thr299=
XM_011534045.1:c.840G>C	XP_011532347.1:p.Thr280=
XM_011534043.2:c.972G>C	XP_011532345.1:p.Thr324=
XM_011534045.3:c.840G>C	XP_011532347.1:p.Thr280=
XM_017007106.1:c.840G>C	XP_016862595.1:p.Thr280=
NM_003242.6:c.945G>C MANE Select	NP_003233.4:p.Thr315=