Canonical Allele Identifier: CA1012388631

Gene: TGFB2

Linked Data

• dbSNP Id: rs1660138503
• gnomAD v3: 1-218441185-C-T
• gnomAD v4: 1-218441185-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218441185C>T , CM000663.2:g.218441185C>T	GRCh38
NC_000001.10:g.218614527C>T , CM000663.1:g.218614527C>T	GRCh37
NC_000001.9:g.216681150C>T	NCBI36
NG_027721.1:g.100852C>T
NG_027721.2:g.100852C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.1087-19C>T MANE Select	ENSP00000355897.4:n.1087-19C>T
ENST00000366929.4:c.1171-19C>T	ENSP00000355896.4:n.1171-19C>T
ENST00000366930.8:c.1087-19C>T	ENSP00000355897.4:n.1087-19C>T
ENST00000479322.1:n.571-19C>T
NM_001135599.2:c.1171-19C>T	NP_001129071.1:n.1171-19C>T
NM_003238.3:c.1087-19C>T	NP_003229.1:n.1087-19C>T
NM_001135599.3:c.1171-19C>T	NP_001129071.1:n.1171-19C>T
NM_003238.4:c.1087-19C>T	NP_003229.1:n.1087-19C>T
NR_138148.1:n.2390-19C>T
NR_138149.1:n.2474-19C>T
NM_003238.5:c.1087-19C>T	NP_003229.1:n.1087-19C>T
NM_003238.6:c.1087-19C>T MANE Select	NP_003229.1:n.1087-19C>T
NM_001135599.4:c.1171-19C>T	NP_001129071.1:n.1171-19C>T
NR_138148.2:n.2338-19C>T
NR_138149.2:n.2422-19C>T