Canonical Allele Identifier: CA72291143

Gene: TGFBR2

Linked Data

• dbSNP Id: rs748849086
• gnomAD v2: 3-30658535-AGGAGATGT-A
• gnomAD v3: 3-30617043-AGGAGATGT-A
• gnomAD v4: 3-30617043-AGGAGATGT-A
• MyVariant Identifiers: chr3:g.30658536_30658543del (hg19) ; chr3:g.30617044_30617051del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30617044_30617051del , CM000665.2:g.30617044_30617051del	GRCh38
NC_000003.11:g.30658536_30658543del , CM000665.1:g.30658536_30658543del	GRCh37
NC_000003.10:g.30633540_30633547del	NCBI36
NG_007490.1:g.15543_15550del , LRG_779:g.15543_15550del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.94+10067_94+10074del MANE Select	ENSP00000295754.5:n.94+10067_94+10074del
ENST00000673250.1:n.143+2338_143+2345del
ENST00000295754.9:c.94+10067_94+10074del	ENSP00000295754.5:n.94+10067_94+10074del
ENST00000359013.4:c.95-6155_95-6148del	ENSP00000351905.4:n.95-6155_95-6148del
NM_001024847.2:c.95-6155_95-6148del , LRG_779t1:c.95-6155_95-6148del	NP_001020018.1:n.95-6155_95-6148del
NM_003242.5:c.94+10067_94+10074del	NP_003233.4:n.94+10067_94+10074del
XM_011534043.1:c.46+2338_46+2345del	XP_011532345.1:n.46+2338_46+2345del
XM_011534044.1:c.46+2338_46+2345del	XP_011532346.1:n.46+2338_46+2345del
XM_011534045.1:c.-12+10451_-12+10458del	XP_011532347.1:n.-12+10451_-12+10458del
XM_011534043.2:c.46+2338_46+2345del	XP_011532345.1:n.46+2338_46+2345del
XM_011534045.3:c.-12+10451_-12+10458del	XP_011532347.1:n.-12+10451_-12+10458del
NM_003242.6:c.94+10067_94+10074del MANE Select	NP_003233.4:n.94+10067_94+10074del