Canonical Allele Identifier: CA433009887
Gene: TGFBR2 HGNC NCBI

Linked Data

gnomAD v4: 3-30606895-G-T
MyVariant Identifiers: chr3:g.30648387G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30606895G>T , CM000665.2:g.30606895G>T GRCh38
NC_000003.11:g.30648387G>T , CM000665.1:g.30648387G>T GRCh37
NC_000003.10:g.30623391G>T NCBI36
NG_007490.1:g.5394G>T , LRG_779:g.5394G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.12G>T MANE Select ENSP00000295754.5:p.Gly4=
ENST00000295754.9:c.12G>T ENSP00000295754.5:p.Gly4=
ENST00000359013.4:c.12G>T ENSP00000351905.4:p.Gly4=
NM_001024847.2:c.12G>T , LRG_779t1:c.12G>T NP_001020018.1:p.Gly4=
NM_003242.5:c.12G>T NP_003233.4:p.Gly4=
XM_011534045.1:c.-12+302G>T XP_011532347.1:n.-12+302G>T
XM_011534045.3:c.-12+302G>T XP_011532347.1:n.-12+302G>T
NM_003242.6:c.12G>T MANE Select NP_003233.4:p.Gly4=