Canonical Allele Identifier: CA541687519

Gene: TGFBR2

Linked Data

• dbSNP Id: rs1467341140
• gnomAD v2: 3-30729777-A-T
• gnomAD v3: 3-30688285-A-T
• gnomAD v4: 3-30688285-A-T
• MyVariant Identifiers: chr3:g.30729777A>T (hg19) ; chr3:g.30688285A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30688285A>T , CM000665.2:g.30688285A>T	GRCh38
NC_000003.11:g.30729777A>T , CM000665.1:g.30729777A>T	GRCh37
NC_000003.10:g.30704781A>T	NCBI36
NG_007490.1:g.86784A>T , LRG_779:g.86784A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.1397-99A>T MANE Select	ENSP00000295754.5:n.1397-99A>T
ENST00000672050.1:n.281-99A>T
ENST00000672866.1:n.2993-99A>T
ENST00000673203.1:n.275-99A>T
ENST00000295754.9:c.1397-99A>T	ENSP00000295754.5:n.1397-99A>T
ENST00000359013.4:c.1472-99A>T	ENSP00000351905.4:n.1472-99A>T
NM_001024847.2:c.1472-99A>T , LRG_779t1:c.1472-99A>T	NP_001020018.1:n.1472-99A>T
NM_003242.5:c.1397-99A>T	NP_003233.4:n.1397-99A>T
XM_011534043.1:c.1424-99A>T	XP_011532345.1:n.1424-99A>T
XM_011534044.1:c.1349-99A>T	XP_011532346.1:n.1349-99A>T
XM_011534045.1:c.1292-99A>T	XP_011532347.1:n.1292-99A>T
XM_011534043.2:c.1424-99A>T	XP_011532345.1:n.1424-99A>T
XM_011534045.3:c.1292-99A>T	XP_011532347.1:n.1292-99A>T
XM_017007106.1:c.1292-99A>T	XP_016862595.1:n.1292-99A>T
NM_003242.6:c.1397-99A>T MANE Select	NP_003233.4:n.1397-99A>T