Canonical Allele Identifier: CA319801

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 213931
• ClinVar RCV Id: RCV000195460
• dbSNP Id: rs863223850
• MyVariant Identifiers: chr3:g.30715621C>T (hg19) ; chr3:g.30674129C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30674129C>T , CM000665.2:g.30674129C>T	GRCh38
NC_000003.11:g.30715621C>T , CM000665.1:g.30715621C>T	GRCh37
NC_000003.10:g.30690625C>T	NCBI36
NG_007490.1:g.72628C>T , LRG_779:g.72628C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.1279C>T MANE Select	ENSP00000295754.5:p.Pro427Ser
ENST00000672866.1:n.2875C>T
ENST00000673203.1:n.157C>T
ENST00000295754.9:c.1279C>T	ENSP00000295754.5:p.Pro427Ser
ENST00000359013.4:c.1354C>T	ENSP00000351905.4:p.Pro452Ser
NM_001024847.2:c.1354C>T , LRG_779t1:c.1354C>T	NP_001020018.1:p.Pro452Ser
NM_003242.5:c.1279C>T	NP_003233.4:p.Pro427Ser
XM_011534043.1:c.1306C>T	XP_011532345.1:p.Pro436Ser
XM_011534044.1:c.1231C>T	XP_011532346.1:p.Pro411Ser
XM_011534045.1:c.1174C>T	XP_011532347.1:p.Pro392Ser
XM_011534043.2:c.1306C>T	XP_011532345.1:p.Pro436Ser
XM_011534045.3:c.1174C>T	XP_011532347.1:p.Pro392Ser
XM_017007106.1:c.1174C>T	XP_016862595.1:p.Pro392Ser
NM_003242.6:c.1279C>T MANE Select	NP_003233.4:p.Pro427Ser