Canonical Allele Identifier: CA351809628

Gene: TGFBR2

Linked Data

• dbSNP Id: rs1196415682
• gnomAD v2: 3-30732982-A-C
• gnomAD v4: 3-30691490-A-C
• MyVariant Identifiers: chr3:g.30732982A>C (hg19) ; chr3:g.30691490A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30691490A>C , CM000665.2:g.30691490A>C	GRCh38
NC_000003.11:g.30732982A>C , CM000665.1:g.30732982A>C	GRCh37
NC_000003.10:g.30707986A>C	NCBI36
NG_007490.1:g.89989A>C , LRG_779:g.89989A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1595A>C MANE Select	ENSP00000295754.5:p.Gln532Pro
ENST00000672050.1:n.479A>C
ENST00000672866.1:n.3191A>C
ENST00000673203.1:n.473A>C
ENST00000295754.9:c.1595A>C	ENSP00000295754.5:p.Gln532Pro
ENST00000359013.4:c.1670A>C	ENSP00000351905.4:p.Gln557Pro
NM_001024847.2:c.1670A>C , LRG_779t1:c.1670A>C	NP_001020018.1:p.Gln557Pro
NM_003242.5:c.1595A>C	NP_003233.4:p.Gln532Pro
XM_011534043.1:c.1622A>C	XP_011532345.1:p.Gln541Pro
XM_011534044.1:c.1547A>C	XP_011532346.1:p.Gln516Pro
XM_011534045.1:c.1490A>C	XP_011532347.1:p.Gln497Pro
XM_011534043.2:c.1622A>C	XP_011532345.1:p.Gln541Pro
XM_011534045.3:c.1490A>C	XP_011532347.1:p.Gln497Pro
XM_017007106.1:c.1490A>C	XP_016862595.1:p.Gln497Pro
NM_003242.6:c.1595A>C MANE Select	NP_003233.4:p.Gln532Pro