Canonical Allele Identifier: CA1046444612

Gene: TGFBR2

Linked Data

• dbSNP Id: rs1698837414
• gnomAD v3: 3-30649385-T-C
• gnomAD v4: 3-30649385-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30649385T>C , CM000665.2:g.30649385T>C	GRCh38
NC_000003.11:g.30690877T>C , CM000665.1:g.30690877T>C	GRCh37
NC_000003.10:g.30665881T>C	NCBI36
NG_007490.1:g.47884T>C , LRG_779:g.47884T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.264-885T>C MANE Select	ENSP00000295754.5:n.264-885T>C
ENST00000672866.1:n.1860-885T>C
ENST00000673250.1:n.388-885T>C
ENST00000295754.9:c.264-885T>C	ENSP00000295754.5:n.264-885T>C
ENST00000359013.4:c.339-885T>C	ENSP00000351905.4:n.339-885T>C
NM_001024847.2:c.339-885T>C , LRG_779t1:c.339-885T>C	NP_001020018.1:n.339-885T>C
NM_003242.5:c.264-885T>C	NP_003233.4:n.264-885T>C
XM_011534043.1:c.291-885T>C	XP_011532345.1:n.291-885T>C
XM_011534044.1:c.216-885T>C	XP_011532346.1:n.216-885T>C
XM_011534045.1:c.159-885T>C	XP_011532347.1:n.159-885T>C
XM_011534043.2:c.291-885T>C	XP_011532345.1:n.291-885T>C
XM_011534045.3:c.159-885T>C	XP_011532347.1:n.159-885T>C
XM_017007106.1:c.159-885T>C	XP_016862595.1:n.159-885T>C
NM_003242.6:c.264-885T>C MANE Select	NP_003233.4:n.264-885T>C