Canonical Allele Identifier: CA351830760

Gene: TGFBR2

Linked Data

• MyVariant Identifiers: chr3:g.30664730C>G (hg19) ; chr3:g.30623238C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30623238C>G , CM000665.2:g.30623238C>G	GRCh38
NC_000003.11:g.30664730C>G , CM000665.1:g.30664730C>G	GRCh37
NC_000003.10:g.30639734C>G	NCBI36
NG_007490.1:g.21737C>G , LRG_779:g.21737C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.94+16261C>G MANE Select	ENSP00000295754.5:n.94+16261C>G
ENST00000673250.1:n.183C>G
ENST00000295754.9:c.94+16261C>G	ENSP00000295754.5:n.94+16261C>G
ENST00000359013.4:c.134C>G	ENSP00000351905.4:p.Pro45Arg
NM_001024847.2:c.134C>G , LRG_779t1:c.134C>G	NP_001020018.1:p.Pro45Arg
NM_003242.5:c.94+16261C>G	NP_003233.4:n.94+16261C>G
XM_011534043.1:c.86C>G	XP_011532345.1:p.Pro29Arg
XM_011534044.1:c.46+8532C>G	XP_011532346.1:n.46+8532C>G
XM_011534045.1:c.-12+16645C>G	XP_011532347.1:n.-12+16645C>G
XM_011534043.2:c.86C>G	XP_011532345.1:p.Pro29Arg
XM_011534045.3:c.-12+16645C>G	XP_011532347.1:n.-12+16645C>G
NM_003242.6:c.94+16261C>G MANE Select	NP_003233.4:n.94+16261C>G