Canonical Allele Identifier: CA344727453

Gene: TGFB2

Linked Data

• MyVariant Identifiers: chr1:g.218610714C>T (hg19) ; chr1:g.218437372C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218437372C>T , CM000663.2:g.218437372C>T	GRCh38
NC_000001.10:g.218610714C>T , CM000663.1:g.218610714C>T	GRCh37
NC_000001.9:g.216677337C>T	NCBI36
NG_027721.1:g.97039C>T
NG_027721.2:g.97039C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.962C>T MANE Select	ENSP00000355897.4:p.Pro321Leu
ENST00000366929.4:c.1046C>T	ENSP00000355896.4:p.Pro349Leu
ENST00000366930.8:c.962C>T	ENSP00000355897.4:p.Pro321Leu
ENST00000479322.1:n.446C>T
NM_001135599.2:c.1046C>T	NP_001129071.1:p.Pro349Leu
NM_003238.3:c.962C>T	NP_003229.1:p.Pro321Leu
NM_001135599.3:c.1046C>T	NP_001129071.1:p.Pro349Leu
NM_003238.4:c.962C>T	NP_003229.1:p.Pro321Leu
NR_138148.1:n.2265C>T
NR_138149.1:n.2349C>T
NM_003238.5:c.962C>T	NP_003229.1:p.Pro321Leu
NM_003238.6:c.962C>T MANE Select	NP_003229.1:p.Pro321Leu
NM_001135599.4:c.1046C>T	NP_001129071.1:p.Pro349Leu
NR_138148.2:n.2213C>T
NR_138149.2:n.2297C>T