Canonical Allele Identifier: CA351809136
Gene: TGFBR2 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.30674228C>A
GRCh37 chr3:g.30715720C>A
Revel Score:
ENST00000295754 (MANE Select) 0.868
ENST00000359013 0.868
ENST00000439925 0.868
ClinVar Allele:
1323488
ClinVar RCV:
RCV001806344
ClinVar Variation:
1332770
dbSNP:
104893811
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30674228C>A , CM000665.2:g.30674228C>A GRCh38
NC_000003.11:g.30715720C>A , CM000665.1:g.30715720C>A GRCh37
NC_000003.10:g.30690724C>A NCBI36
NG_007490.1:g.72727C>A , LRG_779:g.72727C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.1378C>A MANE Select ENSP00000295754.5:p.Arg460Ser
ENST00000672866.1:n.2974C>A
ENST00000673203.1:n.256C>A
ENST00000295754.9:c.1378C>A ENSP00000295754.5:p.Arg460Ser
ENST00000359013.4:c.1453C>A ENSP00000351905.4:p.Arg485Ser
NM_001024847.2:c.1453C>A , LRG_779t1:c.1453C>A NP_001020018.1:p.Arg485Ser
NM_003242.5:c.1378C>A NP_003233.4:p.Arg460Ser
XM_011534043.1:c.1405C>A XP_011532345.1:p.Arg469Ser
XM_011534044.1:c.1330C>A XP_011532346.1:p.Arg444Ser
XM_011534045.1:c.1273C>A XP_011532347.1:p.Arg425Ser
XM_011534043.2:c.1405C>A XP_011532345.1:p.Arg469Ser
XM_011534045.3:c.1273C>A XP_011532347.1:p.Arg425Ser
XM_017007106.1:c.1273C>A XP_016862595.1:p.Arg425Ser
NM_003242.6:c.1378C>A MANE Select NP_003233.4:p.Arg460Ser
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