Canonical Allele Identifier: CA351808873

Gene: TGFBR2

Linked Data

• MyVariant Identifiers: chr3:g.30715598T>C (hg19) ; chr3:g.30674106T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30674106T>C , CM000665.2:g.30674106T>C	GRCh38
NC_000003.11:g.30715598T>C , CM000665.1:g.30715598T>C	GRCh37
NC_000003.10:g.30690602T>C	NCBI36
NG_007490.1:g.72605T>C , LRG_779:g.72605T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.1256T>C MANE Select	ENSP00000295754.5:p.Val419Ala
ENST00000672866.1:n.2852T>C
ENST00000673203.1:n.134T>C
ENST00000295754.9:c.1256T>C	ENSP00000295754.5:p.Val419Ala
ENST00000359013.4:c.1331T>C	ENSP00000351905.4:p.Val444Ala
NM_001024847.2:c.1331T>C , LRG_779t1:c.1331T>C	NP_001020018.1:p.Val444Ala
NM_003242.5:c.1256T>C	NP_003233.4:p.Val419Ala
XM_011534043.1:c.1283T>C	XP_011532345.1:p.Val428Ala
XM_011534044.1:c.1208T>C	XP_011532346.1:p.Val403Ala
XM_011534045.1:c.1151T>C	XP_011532347.1:p.Val384Ala
XM_011534043.2:c.1283T>C	XP_011532345.1:p.Val428Ala
XM_011534045.3:c.1151T>C	XP_011532347.1:p.Val384Ala
XM_017007106.1:c.1151T>C	XP_016862595.1:p.Val384Ala
NM_003242.6:c.1256T>C MANE Select	NP_003233.4:p.Val419Ala