Canonical Allele Identifier: CA351809211

Gene: TGFBR2

Linked Data

• dbSNP Id: rs863224935
• gnomAD v4: 3-30688395-T-C
• MyVariant Identifiers: chr3:g.30729887T>C (hg19) ; chr3:g.30688395T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30688395T>C , CM000665.2:g.30688395T>C	GRCh38
NC_000003.11:g.30729887T>C , CM000665.1:g.30729887T>C	GRCh37
NC_000003.10:g.30704891T>C	NCBI36
NG_007490.1:g.86894T>C , LRG_779:g.86894T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.1408T>C MANE Select	ENSP00000295754.5:p.Tyr470His
ENST00000672050.1:n.292T>C
ENST00000672866.1:n.3004T>C
ENST00000673203.1:n.286T>C
ENST00000295754.9:c.1408T>C	ENSP00000295754.5:p.Tyr470His
ENST00000359013.4:c.1483T>C	ENSP00000351905.4:p.Tyr495His
NM_001024847.2:c.1483T>C , LRG_779t1:c.1483T>C	NP_001020018.1:p.Tyr495His
NM_003242.5:c.1408T>C	NP_003233.4:p.Tyr470His
XM_011534043.1:c.1435T>C	XP_011532345.1:p.Tyr479His
XM_011534044.1:c.1360T>C	XP_011532346.1:p.Tyr454His
XM_011534045.1:c.1303T>C	XP_011532347.1:p.Tyr435His
XM_011534043.2:c.1435T>C	XP_011532345.1:p.Tyr479His
XM_011534045.3:c.1303T>C	XP_011532347.1:p.Tyr435His
XM_017007106.1:c.1303T>C	XP_016862595.1:p.Tyr435His
NM_003242.6:c.1408T>C MANE Select	NP_003233.4:p.Tyr470His