Canonical Allele Identifier: CA906181230

Gene: TGFBR2

Linked Data

• dbSNP Id: rs1181102560
• gnomAD v3: 3-30616992-CTG-C
• gnomAD v4: 3-30616992-CTG-C
• MyVariant Identifiers: chr3:g.30658485_30658486del (hg19) ; chr3:g.30616993_30616994del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30616995_30616996del , CM000665.2:g.30616995_30616996del	GRCh38
NC_000003.11:g.30658487_30658488del , CM000665.1:g.30658487_30658488del	GRCh37
NC_000003.10:g.30633491_30633492del	NCBI36
NG_007490.1:g.15494_15495del , LRG_779:g.15494_15495del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.94+10018_94+10019del MANE Select	ENSP00000295754.5:n.94+10018_94+10019del
ENST00000673250.1:n.143+2289_143+2290del
ENST00000295754.9:c.94+10018_94+10019del	ENSP00000295754.5:n.94+10018_94+10019del
ENST00000359013.4:c.95-6204_95-6203del	ENSP00000351905.4:n.95-6204_95-6203del
NM_001024847.2:c.95-6204_95-6203del , LRG_779t1:c.95-6204_95-6203del	NP_001020018.1:n.95-6204_95-6203del
NM_003242.5:c.94+10018_94+10019del	NP_003233.4:n.94+10018_94+10019del
XM_011534043.1:c.46+2289_46+2290del	XP_011532345.1:n.46+2289_46+2290del
XM_011534044.1:c.46+2289_46+2290del	XP_011532346.1:n.46+2289_46+2290del
XM_011534045.1:c.-12+10402_-12+10403del	XP_011532347.1:n.-12+10402_-12+10403del
XM_011534043.2:c.46+2289_46+2290del	XP_011532345.1:n.46+2289_46+2290del
XM_011534045.3:c.-12+10402_-12+10403del	XP_011532347.1:n.-12+10402_-12+10403del
NM_003242.6:c.94+10018_94+10019del MANE Select	NP_003233.4:n.94+10018_94+10019del