Canonical Allele Identifier: CA906181235

Gene: TGFBR2

Linked Data

• dbSNP Id: rs1179648033
• gnomAD v3: 3-30617027-ATG-A
• gnomAD v4: 3-30617027-ATG-A
• MyVariant Identifiers: chr3:g.30658520_30658521del (hg19) ; chr3:g.30617028_30617029del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30617028_30617029del , CM000665.2:g.30617028_30617029del	GRCh38
NC_000003.11:g.30658520_30658521del , CM000665.1:g.30658520_30658521del	GRCh37
NC_000003.10:g.30633524_30633525del	NCBI36
NG_007490.1:g.15527_15528del , LRG_779:g.15527_15528del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.94+10051_94+10052del MANE Select	ENSP00000295754.5:n.94+10051_94+10052del
ENST00000673250.1:n.143+2322_143+2323del
ENST00000295754.9:c.94+10051_94+10052del	ENSP00000295754.5:n.94+10051_94+10052del
ENST00000359013.4:c.95-6171_95-6170del	ENSP00000351905.4:n.95-6171_95-6170del
NM_001024847.2:c.95-6171_95-6170del , LRG_779t1:c.95-6171_95-6170del	NP_001020018.1:n.95-6171_95-6170del
NM_003242.5:c.94+10051_94+10052del	NP_003233.4:n.94+10051_94+10052del
XM_011534043.1:c.46+2322_46+2323del	XP_011532345.1:n.46+2322_46+2323del
XM_011534044.1:c.46+2322_46+2323del	XP_011532346.1:n.46+2322_46+2323del
XM_011534045.1:c.-12+10435_-12+10436del	XP_011532347.1:n.-12+10435_-12+10436del
XM_011534043.2:c.46+2322_46+2323del	XP_011532345.1:n.46+2322_46+2323del
XM_011534045.3:c.-12+10435_-12+10436del	XP_011532347.1:n.-12+10435_-12+10436del
NM_003242.6:c.94+10051_94+10052del MANE Select	NP_003233.4:n.94+10051_94+10052del