Canonical Allele Identifier: CA433059059
Gene: TGFBR2 HGNC NCBI

Linked Data

dbSNP Id: rs2125435864
MyVariant Identifiers: chr3:g.30713734C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30672242C>G , CM000665.2:g.30672242C>G GRCh38
NC_000003.11:g.30713734C>G , CM000665.1:g.30713734C>G GRCh37
NC_000003.10:g.30688738C>G NCBI36
NG_007490.1:g.70741C>G , LRG_779:g.70741C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000295754.10:c.1059C>G MANE Select ENSP00000295754.5:p.Ser353=
ENST00000672866.1:n.2655C>G
ENST00000295754.9:c.1059C>G ENSP00000295754.5:p.Ser353=
ENST00000359013.4:c.1134C>G ENSP00000351905.4:p.Ser378=
NM_001024847.2:c.1134C>G , LRG_779t1:c.1134C>G NP_001020018.1:p.Ser378=
NM_003242.5:c.1059C>G NP_003233.4:p.Ser353=
XM_011534043.1:c.1086C>G XP_011532345.1:p.Ser362=
XM_011534044.1:c.1011C>G XP_011532346.1:p.Ser337=
XM_011534045.1:c.954C>G XP_011532347.1:p.Ser318=
XM_011534043.2:c.1086C>G XP_011532345.1:p.Ser362=
XM_011534045.3:c.954C>G XP_011532347.1:p.Ser318=
XM_017007106.1:c.954C>G XP_016862595.1:p.Ser318=
NM_003242.6:c.1059C>G MANE Select NP_003233.4:p.Ser353=