Canonical Allele Identifier: CA2664866963
Gene: TGFBR2 HGNC NCBI

Linked Data

gnomAD v4: 3-30623181-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30623181A>G , CM000665.2:g.30623181A>G GRCh38
NC_000003.11:g.30664673A>G , CM000665.1:g.30664673A>G GRCh37
NC_000003.10:g.30639677A>G NCBI36
NG_007490.1:g.21680A>G , LRG_779:g.21680A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.94+16204A>G MANE Select ENSP00000295754.5:n.94+16204A>G
ENST00000673250.1:n.144-18A>G
ENST00000295754.9:c.94+16204A>G ENSP00000295754.5:n.94+16204A>G
ENST00000359013.4:c.95-18A>G ENSP00000351905.4:n.95-18A>G
NM_001024847.2:c.95-18A>G , LRG_779t1:c.95-18A>G NP_001020018.1:n.95-18A>G
NM_003242.5:c.94+16204A>G NP_003233.4:n.94+16204A>G
XM_011534043.1:c.47-18A>G XP_011532345.1:n.47-18A>G
XM_011534044.1:c.46+8475A>G XP_011532346.1:n.46+8475A>G
XM_011534045.1:c.-12+16588A>G XP_011532347.1:n.-12+16588A>G
XM_011534043.2:c.47-18A>G XP_011532345.1:n.47-18A>G
XM_011534045.3:c.-12+16588A>G XP_011532347.1:n.-12+16588A>G
NM_003242.6:c.94+16204A>G MANE Select NP_003233.4:n.94+16204A>G