Canonical Allele Identifier: CA433059050
Gene: TGFBR2 HGNC NCBI

Linked Data

dbSNP Id: rs756159556
MyVariant Identifiers: chr3:g.30713731C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30672239C>T , CM000665.2:g.30672239C>T GRCh38
NC_000003.11:g.30713731C>T , CM000665.1:g.30713731C>T GRCh37
NC_000003.10:g.30688735C>T NCBI36
NG_007490.1:g.70738C>T , LRG_779:g.70738C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000295754.10:c.1056C>T MANE Select ENSP00000295754.5:p.Ser352=
ENST00000672866.1:n.2652C>T
ENST00000295754.9:c.1056C>T ENSP00000295754.5:p.Ser352=
ENST00000359013.4:c.1131C>T ENSP00000351905.4:p.Ser377=
NM_001024847.2:c.1131C>T , LRG_779t1:c.1131C>T NP_001020018.1:p.Ser377=
NM_003242.5:c.1056C>T NP_003233.4:p.Ser352=
XM_011534043.1:c.1083C>T XP_011532345.1:p.Ser361=
XM_011534044.1:c.1008C>T XP_011532346.1:p.Ser336=
XM_011534045.1:c.951C>T XP_011532347.1:p.Ser317=
XM_011534043.2:c.1083C>T XP_011532345.1:p.Ser361=
XM_011534045.3:c.951C>T XP_011532347.1:p.Ser317=
XM_017007106.1:c.951C>T XP_016862595.1:p.Ser317=
NM_003242.6:c.1056C>T MANE Select NP_003233.4:p.Ser352=