Canonical Allele Identifier: CA351830774

Gene: TGFBR2

Linked Data

• MyVariant Identifiers: chr3:g.30664738A>C (hg19) ; chr3:g.30623246A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30623246A>C , CM000665.2:g.30623246A>C	GRCh38
NC_000003.11:g.30664738A>C , CM000665.1:g.30664738A>C	GRCh37
NC_000003.10:g.30639742A>C	NCBI36
NG_007490.1:g.21745A>C , LRG_779:g.21745A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.94+16269A>C MANE Select	ENSP00000295754.5:n.94+16269A>C
ENST00000673250.1:n.191A>C
ENST00000295754.9:c.94+16269A>C	ENSP00000295754.5:n.94+16269A>C
ENST00000359013.4:c.142A>C	ENSP00000351905.4:p.Asn48His
NM_001024847.2:c.142A>C , LRG_779t1:c.142A>C	NP_001020018.1:p.Asn48His
NM_003242.5:c.94+16269A>C	NP_003233.4:n.94+16269A>C
XM_011534043.1:c.94A>C	XP_011532345.1:p.Asn32His
XM_011534044.1:c.46+8540A>C	XP_011532346.1:n.46+8540A>C
XM_011534045.1:c.-12+16653A>C	XP_011532347.1:n.-12+16653A>C
XM_011534043.2:c.94A>C	XP_011532345.1:p.Asn32His
XM_011534045.3:c.-12+16653A>C	XP_011532347.1:n.-12+16653A>C
NM_003242.6:c.94+16269A>C MANE Select	NP_003233.4:n.94+16269A>C