Canonical Allele Identifier: CA1046450762

Gene: TGFBR2

Linked Data

• dbSNP Id: rs1698145568
• gnomAD v3: 3-30617015-G-T
• gnomAD v4: 3-30617015-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30617015G>T , CM000665.2:g.30617015G>T	GRCh38
NC_000003.11:g.30658507G>T , CM000665.1:g.30658507G>T	GRCh37
NC_000003.10:g.30633511G>T	NCBI36
NG_007490.1:g.15514G>T , LRG_779:g.15514G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.94+10038G>T MANE Select	ENSP00000295754.5:n.94+10038G>T
ENST00000673250.1:n.143+2309G>T
ENST00000295754.9:c.94+10038G>T	ENSP00000295754.5:n.94+10038G>T
ENST00000359013.4:c.95-6184G>T	ENSP00000351905.4:n.95-6184G>T
NM_001024847.2:c.95-6184G>T , LRG_779t1:c.95-6184G>T	NP_001020018.1:n.95-6184G>T
NM_003242.5:c.94+10038G>T	NP_003233.4:n.94+10038G>T
XM_011534043.1:c.46+2309G>T	XP_011532345.1:n.46+2309G>T
XM_011534044.1:c.46+2309G>T	XP_011532346.1:n.46+2309G>T
XM_011534045.1:c.-12+10422G>T	XP_011532347.1:n.-12+10422G>T
XM_011534043.2:c.46+2309G>T	XP_011532345.1:n.46+2309G>T
XM_011534045.3:c.-12+10422G>T	XP_011532347.1:n.-12+10422G>T
NM_003242.6:c.94+10038G>T MANE Select	NP_003233.4:n.94+10038G>T