Canonical Allele Identifier: CA432917604
Gene: TGFBR2 HGNC NCBI

Linked Data

dbSNP Id: rs2125436568
MyVariant Identifiers: chr3:g.30713824C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30672332C>G , CM000665.2:g.30672332C>G GRCh38
NC_000003.11:g.30713824C>G , CM000665.1:g.30713824C>G GRCh37
NC_000003.10:g.30688828C>G NCBI36
NG_007490.1:g.70831C>G , LRG_779:g.70831C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.1149C>G MANE Select ENSP00000295754.5:p.Ser383=
ENST00000672866.1:n.2745C>G
ENST00000295754.9:c.1149C>G ENSP00000295754.5:p.Ser383=
ENST00000359013.4:c.1224C>G ENSP00000351905.4:p.Ser408=
NM_001024847.2:c.1224C>G , LRG_779t1:c.1224C>G NP_001020018.1:p.Ser408=
NM_003242.5:c.1149C>G NP_003233.4:p.Ser383=
XM_011534043.1:c.1176C>G XP_011532345.1:p.Ser392=
XM_011534044.1:c.1101C>G XP_011532346.1:p.Ser367=
XM_011534045.1:c.1044C>G XP_011532347.1:p.Ser348=
XM_011534043.2:c.1176C>G XP_011532345.1:p.Ser392=
XM_011534045.3:c.1044C>G XP_011532347.1:p.Ser348=
XM_017007106.1:c.1044C>G XP_016862595.1:p.Ser348=
NM_003242.6:c.1149C>G MANE Select NP_003233.4:p.Ser383=