Canonical Allele Identifier: CA351809540

Gene: TGFBR2

Linked Data

• dbSNP Id: rs1699707859
• gnomAD v4: 3-30691448-C-G
• MyVariant Identifiers: chr3:g.30732940C>G (hg19) ; chr3:g.30691448C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30691448C>G , CM000665.2:g.30691448C>G	GRCh38
NC_000003.11:g.30732940C>G , CM000665.1:g.30732940C>G	GRCh37
NC_000003.10:g.30707944C>G	NCBI36
NG_007490.1:g.89947C>G , LRG_779:g.89947C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1553C>G MANE Select	ENSP00000295754.5:p.Thr518Ser
ENST00000672050.1:n.437C>G
ENST00000672866.1:n.3149C>G
ENST00000673203.1:n.431C>G
ENST00000295754.9:c.1553C>G	ENSP00000295754.5:p.Thr518Ser
ENST00000359013.4:c.1628C>G	ENSP00000351905.4:p.Thr543Ser
NM_001024847.2:c.1628C>G , LRG_779t1:c.1628C>G	NP_001020018.1:p.Thr543Ser
NM_003242.5:c.1553C>G	NP_003233.4:p.Thr518Ser
XM_011534043.1:c.1580C>G	XP_011532345.1:p.Thr527Ser
XM_011534044.1:c.1505C>G	XP_011532346.1:p.Thr502Ser
XM_011534045.1:c.1448C>G	XP_011532347.1:p.Thr483Ser
XM_011534043.2:c.1580C>G	XP_011532345.1:p.Thr527Ser
XM_011534045.3:c.1448C>G	XP_011532347.1:p.Thr483Ser
XM_017007106.1:c.1448C>G	XP_016862595.1:p.Thr483Ser
NM_003242.6:c.1553C>G MANE Select	NP_003233.4:p.Thr518Ser