Canonical Allele Identifier: CA433059096
Gene: TGFBR2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.30713749T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30672257T>C , CM000665.2:g.30672257T>C GRCh38
NC_000003.11:g.30713749T>C , CM000665.1:g.30713749T>C GRCh37
NC_000003.10:g.30688753T>C NCBI36
NG_007490.1:g.70756T>C , LRG_779:g.70756T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.1074T>C MANE Select ENSP00000295754.5:p.Ile358=
ENST00000672866.1:n.2670T>C
ENST00000295754.9:c.1074T>C ENSP00000295754.5:p.Ile358=
ENST00000359013.4:c.1149T>C ENSP00000351905.4:p.Ile383=
NM_001024847.2:c.1149T>C , LRG_779t1:c.1149T>C NP_001020018.1:p.Ile383=
NM_003242.5:c.1074T>C NP_003233.4:p.Ile358=
XM_011534043.1:c.1101T>C XP_011532345.1:p.Ile367=
XM_011534044.1:c.1026T>C XP_011532346.1:p.Ile342=
XM_011534045.1:c.969T>C XP_011532347.1:p.Ile323=
XM_011534043.2:c.1101T>C XP_011532345.1:p.Ile367=
XM_011534045.3:c.969T>C XP_011532347.1:p.Ile323=
XM_017007106.1:c.969T>C XP_016862595.1:p.Ile323=
NM_003242.6:c.1074T>C MANE Select NP_003233.4:p.Ile358=