Canonical Allele Identifier: CA1046450768

Gene: TGFBR2

Linked Data

• dbSNP Id: rs11129420
• gnomAD v3: 3-30617049-T-G
• gnomAD v4: 3-30617049-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30617049T>G , CM000665.2:g.30617049T>G	GRCh38
NC_000003.11:g.30658541T>G , CM000665.1:g.30658541T>G	GRCh37
NC_000003.10:g.30633545T>G	NCBI36
NG_007490.1:g.15548T>G , LRG_779:g.15548T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.94+10072T>G MANE Select	ENSP00000295754.5:n.94+10072T>G
ENST00000673250.1:n.143+2343T>G
ENST00000295754.9:c.94+10072T>G	ENSP00000295754.5:n.94+10072T>G
ENST00000359013.4:c.95-6150T>G	ENSP00000351905.4:n.95-6150T>G
NM_001024847.2:c.95-6150T>G , LRG_779t1:c.95-6150T>G	NP_001020018.1:n.95-6150T>G
NM_003242.5:c.94+10072T>G	NP_003233.4:n.94+10072T>G
XM_011534043.1:c.46+2343T>G	XP_011532345.1:n.46+2343T>G
XM_011534044.1:c.46+2343T>G	XP_011532346.1:n.46+2343T>G
XM_011534045.1:c.-12+10456T>G	XP_011532347.1:n.-12+10456T>G
XM_011534043.2:c.46+2343T>G	XP_011532345.1:n.46+2343T>G
XM_011534045.3:c.-12+10456T>G	XP_011532347.1:n.-12+10456T>G
NM_003242.6:c.94+10072T>G MANE Select	NP_003233.4:n.94+10072T>G