Canonical Allele Identifier: CA351808833

Gene: TGFBR2

Linked Data

• dbSNP Id: rs2125437112
• MyVariant Identifiers: chr3:g.30713919A>C (hg19) ; chr3:g.30672427A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672427A>C , CM000665.2:g.30672427A>C	GRCh38
NC_000003.11:g.30713919A>C , CM000665.1:g.30713919A>C	GRCh37
NC_000003.10:g.30688923A>C	NCBI36
NG_007490.1:g.70926A>C , LRG_779:g.70926A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1244A>C MANE Select	ENSP00000295754.5:p.Asn415Thr
ENST00000672866.1:n.2840A>C
ENST00000295754.9:c.1244A>C	ENSP00000295754.5:p.Asn415Thr
ENST00000359013.4:c.1319A>C	ENSP00000351905.4:p.Asn440Thr
NM_001024847.2:c.1319A>C , LRG_779t1:c.1319A>C	NP_001020018.1:p.Asn440Thr
NM_003242.5:c.1244A>C	NP_003233.4:p.Asn415Thr
XM_011534043.1:c.1271A>C	XP_011532345.1:p.Asn424Thr
XM_011534044.1:c.1196A>C	XP_011532346.1:p.Asn399Thr
XM_011534045.1:c.1139A>C	XP_011532347.1:p.Asn380Thr
XM_011534043.2:c.1271A>C	XP_011532345.1:p.Asn424Thr
XM_011534045.3:c.1139A>C	XP_011532347.1:p.Asn380Thr
XM_017007106.1:c.1139A>C	XP_016862595.1:p.Asn380Thr
NM_003242.6:c.1244A>C MANE Select	NP_003233.4:p.Asn415Thr