Canonical Allele Identifier: CA906181288

Gene: TGFBR2

Linked Data

• dbSNP Id: rs71093915
• gnomAD v3: 3-30617082-GAAAAAAA-G
• gnomAD v4: 3-30617082-GAAAAAAA-G
• MyVariant Identifiers: chr3:g.30658575_30658581del (hg19) ; chr3:g.30617083_30617089del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30617088_30617094del , CM000665.2:g.30617088_30617094del	GRCh38
NC_000003.11:g.30658580_30658586del , CM000665.1:g.30658580_30658586del	GRCh37
NC_000003.10:g.30633584_30633590del	NCBI36
NG_007490.1:g.15587_15593del , LRG_779:g.15587_15593del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.94+10111_94+10117del MANE Select	ENSP00000295754.5:n.94+10111_94+10117del
ENST00000673250.1:n.143+2382_143+2388del
ENST00000295754.9:c.94+10111_94+10117del	ENSP00000295754.5:n.94+10111_94+10117del
ENST00000359013.4:c.95-6111_95-6105del	ENSP00000351905.4:n.95-6111_95-6105del
NM_001024847.2:c.95-6111_95-6105del , LRG_779t1:c.95-6111_95-6105del	NP_001020018.1:n.95-6111_95-6105del
NM_003242.5:c.94+10111_94+10117del	NP_003233.4:n.94+10111_94+10117del
XM_011534043.1:c.46+2382_46+2388del	XP_011532345.1:n.46+2382_46+2388del
XM_011534044.1:c.46+2382_46+2388del	XP_011532346.1:n.46+2382_46+2388del
XM_011534045.1:c.-12+10495_-12+10501del	XP_011532347.1:n.-12+10495_-12+10501del
XM_011534043.2:c.46+2382_46+2388del	XP_011532345.1:n.46+2382_46+2388del
XM_011534045.3:c.-12+10495_-12+10501del	XP_011532347.1:n.-12+10495_-12+10501del
NM_003242.6:c.94+10111_94+10117del MANE Select	NP_003233.4:n.94+10111_94+10117del