Canonical Allele Identifier: CA351808476

Gene: TGFBR2

Linked Data

• dbSNP Id: rs1699356638
• gnomAD v4: 3-30672256-T-C
• MyVariant Identifiers: chr3:g.30713748T>C (hg19) ; chr3:g.30672256T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672256T>C , CM000665.2:g.30672256T>C	GRCh38
NC_000003.11:g.30713748T>C , CM000665.1:g.30713748T>C	GRCh37
NC_000003.10:g.30688752T>C	NCBI36
NG_007490.1:g.70755T>C , LRG_779:g.70755T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.1073T>C MANE Select	ENSP00000295754.5:p.Ile358Thr
ENST00000672866.1:n.2669T>C
ENST00000295754.9:c.1073T>C	ENSP00000295754.5:p.Ile358Thr
ENST00000359013.4:c.1148T>C	ENSP00000351905.4:p.Ile383Thr
NM_001024847.2:c.1148T>C , LRG_779t1:c.1148T>C	NP_001020018.1:p.Ile383Thr
NM_003242.5:c.1073T>C	NP_003233.4:p.Ile358Thr
XM_011534043.1:c.1100T>C	XP_011532345.1:p.Ile367Thr
XM_011534044.1:c.1025T>C	XP_011532346.1:p.Ile342Thr
XM_011534045.1:c.968T>C	XP_011532347.1:p.Ile323Thr
XM_011534043.2:c.1100T>C	XP_011532345.1:p.Ile367Thr
XM_011534045.3:c.968T>C	XP_011532347.1:p.Ile323Thr
XM_017007106.1:c.968T>C	XP_016862595.1:p.Ile323Thr
NM_003242.6:c.1073T>C MANE Select	NP_003233.4:p.Ile358Thr